No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.-168-?_26+?del |
p.Met1? |
Female |
|
Rett syndrome-Not certain |
1820 |
:Bunyan, D.:: |
2 |
c.-168-?_26+?del |
p.Met1? |
Female |
|
Rett syndrome-Not certain |
1865 |
:Bunyan, D.:: |
3 |
c.-168-?_26+?del |
p.Met1? |
Female |
|
Rett syndrome-Classical |
2073 |
:Cardiff, UK:: |
4 |
c.-168-?_26+?del |
p.Met1? |
Female |
|
Rett syndrome-Atypical |
2075 |
:Cardiff, UK:: |
5 |
c.-168-?_26+?del |
p.Met1? |
Female |
|
Rett syndrome-Classical |
2076 |
:Cardiff, UK:: |
6 |
c.-168-?_26+?del |
p.Met1? |
Female |
Neither parent has variation |
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? |
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? |
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? |
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? |
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? |
Female |
de novo |
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? |
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? |
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? |
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 |