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| Pigmentary skin disorders v1.33 | TFE3 | Ivone Leong Phenotypes for gene: TFE3 were changed from Intellectual disability with pigmentary mosaicism and storage disorder-like features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.27 | ARSE |
Catherine Snow Added phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 for gene: ARSE Publications for gene ARSE were changed from to 7720070 |
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| Pigmentary skin disorders v0.25 | ARSE | Tom Cullup reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: 7720070; Phenotypes: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE, CDPX1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.12 | ARSE | Louise Daugherty Tag new-gene-name tag was added to gene: ARSE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.12 | ARSE | Louise Daugherty commented on gene: ARSE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.12 | PPP1CB |
Catherine Snow gene: PPP1CB was added gene: PPP1CB was added to Pigmentary skin disorders. Sources: Expert Review Green,Other Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27681385; 28211982; 27264673 Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair |
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| Pigmentary skin disorders v0.8 | ARSE | Rebecca Foulger Source London North GLH was added to ARSE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | ARSE | Rebecca Foulger reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | ARSE |
Rebecca Foulger gene: ARSE was added gene: ARSE was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to Chondrodysplasia punctata |
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