Proband information
Proband id | 1495 |
---|---|
Systematic Name (NM_004992.3:) |
c.806delG |
Protein name (NP_004983) |
p.Gly269fs |
Alternate systematic Name (NM_001110792.1:) |
c.842delG |
Alternate Protein name (NP_001104262) |
p.(Gly281Alafs*20) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296473delC |
Mutation type | Frameshift insertion or deletion |
Domain | TRD-NLS |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | Y |
Carrier result | Variation found in affected maternal aunt, variation not found in unaffected maternal uncle, variation found in affected mother, variation found in affected maternal half-brother, variation not found in unaffected maternal grandparents |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Familial |
Phenotype-class | Rett syndrome-Classical |
Reference | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.806delG | p.Gly269fs | Female | Rett syndrome-Not certain | 21 | :Bunyan, D.:: | |
2 | c.806delG | p.Gly269fs | Unknown | Rett syndrome-Not certain | 137 | Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 | |
3 | c.806delG | p.Gly269fs | Female | Rett syndrome-Classical | 308 | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 | |
4 | c.806delG | p.Gly269fs | Female | Rett syndrome-Classical | 309 | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 | |
5 | c.806delG | p.Gly269fs | Female | Neither parent has variation | Rett syndrome-Classical | 342 | Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 |
6 | c.806delG | p.Gly269fs | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 472 | ::: |
7 | c.806delG | p.Gly269fs | Female | Rett syndrome-Not certain | 1113 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | |
8 | c.806delG | p.Gly269fs | Female | Rett syndrome-Not certain | 1114 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | |
9 | c.806delG | p.Gly269fs | Female | Rett syndrome-Not certain | 1148 | MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Belaïd, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, Valérie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684 | |
10 | c.806delG | p.Gly269fs | Female | Rett syndrome-Classical | 1426 | DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 | |
11 | c.806delG | p.Gly269fs | Female | Rett syndrome-Classical | 1452 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | |
12 | c.806delG | p.Gly269fs | Female | Variation found in affected maternal aunt, variation not found in unaffected maternal uncle, variation found in affected mother, variation found in affected maternal half-brother, variation not found in unaffected maternal grandparents | Rett syndrome-Classical | 1495 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 |
13 | c.806delG | p.Gly269fs | Male | Variation found in affected maternal aunt, variation not found in unaffected maternal uncle, variation found in affected mother, variation found in affected maternal half-sister, variation not found in unaffected maternal grandparents | Not Rett synd. | 1496 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 |
14 | c.806delG | p.Gly269fs | Female | Variation found in affected son and affected daughter, variation found in affected sister, variation not found in unaffected brother, variation not found in unaffected parents | Not Rett synd. | 1497 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 |
15 | c.806delG | p.Gly269fs | Female | Variation found in affected sister, variation found in affected nephew and affected niece, variation not found in unaffected brother, variation not found in unaffected parents | Rett syndrome-Classical | 1498 | Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905 |
16 | c.806delG | p.Gly269fs | Female | Rett syndrome-Not certain | 1618 | :Bunyan, D.:: | |
17 | c.806delG | p.Gly269fs | Female | Not Known | 1680 | :Friez, Michael:: | |
18 | c.806delG | p.Gly269fs | Female | Not Known | 1702 | :Friez, Michael:: | |
19 | c.806delG | p.Gly269fs | Female | Not Known | 1744 | :Friez, Michael:: | |
20 | c.806delG | p.Gly269fs | Female | Not Known | 1812 | :Friez, Michael:: | |
21 | c.806delG | p.Gly269fs | Female | Rett syndrome-Not certain | 1843 | :Bunyan, D.:: | |
22 | c.806delG | p.Gly269fs | Female | Rett syndrome-Not certain | 1896 | ::: | |
23 | c.806delG | p.Gly269fs | Female | Rett syndrome-Not certain | 1897 | ::: | |
24 | c.806delG | p.Gly269fs | Female | Rett syndrome-atypical | 1926 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | |
25 | c.806delG | p.Gly269fs | Female | Rett syndrome-classical | 1965 | Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 | |
26 | c.806delG | p.Gly269fs | Male | Unaffected mother is not a carrier, unaffected father contributed a Y chromosome | Not Rett synd. | 1981 | Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation:V. Leuzzi, M.L. Di Sabato, M. Zollino, M.L. Montanaro, and S. Seri:Neurology: 15557528 |
27 | c.806delG | p.Gly269fs | Female | Not Known | 2010 | ::: | |
28 | c.806delG | p.Gly269fs | Male | Mother does not have variation | Not Known | 2060 | ::: |
29 | c.806delG | p.Gly269fs | Female | Rett syndrome-Classical | 2095 | :Cardiff, UK:: | |
30 | c.806delG | p.Gly269fs | Female | Rett syndrome-Not certain | 2096 | :Cardiff, UK:: | |
31 | c.806delG | p.Gly269fs | Female | Rett syndrome-Classical | 2097 | :Cardiff, UK:: | |
32 | c.806delG | p.Gly269fs | Female | Rett syndrome-Classical | 2604 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | |
33 | c.806delG | p.Gly269fs | Female | Rett syndrome-Classical | 2605 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | |
34 | c.806delG | p.Gly269fs | Male | de novo | Not Rett synd. | 2794 | Early progressive encephalopathy in boys and MECP2 mutations:Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C.M., Dure, L.S., IV, Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W.E., Ravine, D., Percy, A.K.:Neurology: 16832102 |
35 | c.806delG | p.Gly269fs | Female | Rett syndrome-classical | 3007 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 | |
36 | c.806delG | p.Gly269fs | Female | Rett syndrome-not certain | 3268 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
37 | c.806delG | p.Gly269fs | Female | Rett syndrome-not certain | 3269 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
38 | c.806delG | p.Gly269fs | Female | Rett syndrome-not certain | 3270 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
39 | c.806delG | p.Gly269fs | Female | Rett syndrome-not certain | 3271 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
40 | c.806delG | p.Gly269fs | Female | Rett syndrome-not certain | 3272 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
41 | c.806delG | p.Gly269fs | Female | Rett syndrome-not certain | 3273 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
42 | c.806delG | p.Gly269fs | Female | Rett syndrome-not certain | 3274 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
43 | c.806delG | p.Gly269fs | Female | de novo | Rett syndrome-not certain | 3598 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
44 | c.806delG | p.Gly269fs | Female | de novo | Rett syndrome-not certain | 3599 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
45 | c.806delG | p.Gly269fs | Female | de novo | Rett syndrome-not certain | 3600 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
46 | c.806delG | p.Gly269fs | Female | de novo | Rett syndrome-not certain | 3601 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
47 | c.806delG | p.Gly269fs | Female | de novo | Rett syndrome-not certain | 3602 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
48 | c.806delG | p.Gly269fs | Female | de novo | Rett syndrome-not certain | 3603 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
49 | c.806delG | p.Gly269fs | Female | de novo | Rett syndrome-not certain | 3604 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
50 | c.806delG | p.Gly269fs | Female | de novo | Rett syndrome-classical | 3765 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
51 | c.806delG | p.Gly269fs | Female | NK | Rett syndrome-not certain | 4071 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 |
52 | c.806delG | p.Gly269fs | Female | Rett syndrome-not certain | 4707 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | |
53 | c.806delG | p.Gly269fs | Female | Rett syndrome-classical | 4850 | MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 | |
54 | c.806delG | p.Gly269fs | Female | Rett syndrome-not certain | 4915 | Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991 | |
55 | c.806delG | p.Gly269fs | Female | Rett syndrome-not certain | 5064 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | |
56 | c.806delG | p.Gly269fs | Female | Rett syndrome-not certain | 5065 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | |
57 | c.806delG | p.Gly269Alafs*20 | Female | Mother,Father-Negative | Rett syndrome-preserved speech | 6744 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 |
58 | c.806delG | p.Gly269fs | Female | Rett syndrome-classical | 6610 | ::: | |
59 | c.806delG | p.Gly269fs | Female | Rett syndrome-classical | 6609 | ::: | |
60 | c.806delG | p.Gly269fs | Female | Rett syndrome-classical | 6608 | ::: | |
61 | c.806delG | p.Gly269fs | Male | Not Rett synd. | 6607 | ::: | |
62 | c.806delG | p.Gly269fs | Female | Rett syndrome-classical | 6606 | ::: | |
63 | c.806delG | p.Gly269fs | Female | Rett syndrome-classical | 6578 | ::: |