Activity
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| Pigmentary skin disorders v1.18 | EDNRB | Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" as patients with biallelic variants have a more severe phenotype. This MOI change does not affect tiering. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v1.18 | EDNRB | Ivone Leong Mode of inheritance for gene: EDNRB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.27 | EDNRB |
Catherine Snow Added phenotypes WS4A; WAARDENBURG SYNDROME, TYPE 4A for gene: EDNRB Publications for gene EDNRB were changed from to 8634719; 10528251 |
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| Pigmentary skin disorders v0.25 | EDNRB | Tom Cullup reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 8634719, 10528251; Phenotypes: WAARDENBURG SYNDROME, TYPE 4A, WS4A; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | EDNRB | Rebecca Foulger Source London North GLH was added to EDNRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.7 | EDNRB | Rebecca Foulger commented on gene: EDNRB: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. EDNRB is Green on the 'Hearing loss' panel, with a review from Maria Bitner-Glindzicz who records that "Good evidence for causing Waardenburg syndrome (rare cause) and the diagnosis could be missed so put on green list". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | EDNRB | Rebecca Foulger reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | EDNRB |
Rebecca Foulger gene: EDNRB was added gene: EDNRB was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EDNRB were set to Waardenburg syndrome |
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