Variant information


Systematic Name c.-168-?_26+?del
Protein name p.Met1?
Mutation type exon deletions
Domain N-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection MLPA
Extent Exons1-5
Evidence of Pathogenicity
Carrier status checked N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-classical
Reference Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Not certain 1820 :Bunyan, D.::
2 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Not certain 1865 :Bunyan, D.::
3 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2073 :Cardiff, UK::
4 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Atypical 2075 :Cardiff, UK::
5 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2076 :Cardiff, UK::
6 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2498 Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene:D Bartholdi, A Klein, M Weissert, N Koenig, A Baumer, E Boltshauser, A Schinzel, W Berger and G Mátyás:Clinical Genetics: 16630165
7 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-Classical 2534 Large Genomic Rearrangements in MECP2:Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, and Marianne Schwartz:Human mutation: 15712379
8 c.-168-?_26+?del p.Met1? large deletion N-term Mutation associated with disease Female Rett syndrome-classical 2760 Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352
9 c.-168-?_26+?del p.Met1? large deletion N-term Mutation associated with disease Female Rett syndrome-classical 2761 Deleterious mutations in exon 1 of MECP2 in Rett syndrome:Quenard, A., Yilmaz, S., Fontaine, H., Bienvenu, T., Moncla, A., des Portes, V., Rivier, F., Mathieu, M., Raux, G., Jonveaux, P, Philippe, C.:European Journal of Medical Genetics: 16829352
10 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 2783 Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625
11 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-not certain 3611 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
12 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 3769 Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients:Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ:J Med Genet: 16183801
13 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 3770 Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients:Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ:J Med Genet: 16183801
14 c.-168-?_26+?del p.Met1? exon deletions N-term Mutation associated with disease Female Rett syndrome-classical 3771 Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients:Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ:J Med Genet: 16183801