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Rare genetic inflammatory skin disorders v1.32 | SH3PXD2B | Ivone Leong Phenotypes for gene: SH3PXD2B were changed from Borrone dermato-cardio-skeletal syndrome; FTHS; FRANK-TER HAAR SYNDROME to FRANK-TER HAAR SYNDROME, OMIM:249420 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare genetic inflammatory skin disorders v0.22 | SH3PXD2B |
Catherine Snow Added phenotypes FTHS; FRANK-TER HAAR SYNDROME for gene: SH3PXD2B Publications for gene SH3PXD2B were changed from to 20137777 |
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Rare genetic inflammatory skin disorders v0.21 | SH3PXD2B | Tom Cullup reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20137777; Phenotypes: FRANK-TER HAAR SYNDROME, FTHS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare genetic inflammatory skin disorders v0.5 | SH3PXD2B | Rebecca Foulger Source London North GLH was added to SH3PXD2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare genetic inflammatory skin disorders v0.4 | SH3PXD2B | Rebecca Foulger reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare genetic inflammatory skin disorders v0.3 | SH3PXD2B |
Rebecca Foulger gene: SH3PXD2B was added gene: SH3PXD2B was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SH3PXD2B were set to Borrone dermato-cardio-skeletal syndrome |