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 |
::: |