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| Rare genetic inflammatory skin disorders v1.31 | SAMHD1 | Ivone Leong Phenotypes for gene: SAMHD1 were changed from Chillblain lupus; Aicardi-Goutieres syndrome; AGS5, CHILBLAIN LUPUS 2; AICARDI-GOUTIERES SYNDROME 5; CHBL2 to ?Chilblain lupus 2, OMIM:614415; AICARDI-GOUTIERES SYNDROME 5, OMIM:612952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | SAMHD1 |
Catherine Snow Added phenotypes AICARDI-GOUTIERES SYNDROME 5; AGS5, CHILBLAIN LUPUS 2; CHBL2 for gene: SAMHD1 Publications for gene SAMHD1 were changed from to 21204240; 19525956 |
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| Rare genetic inflammatory skin disorders v0.21 | SAMHD1 | Tom Cullup reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19525956, 21204240; Phenotypes: AICARDI-GOUTIERES SYNDROME 5, AGS5, CHILBLAIN LUPUS 2, CHBL2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.5 | SAMHD1 | Rebecca Foulger Source London North GLH was added to SAMHD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.4 | SAMHD1 | Rebecca Foulger reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.3 | SAMHD1 |
Rebecca Foulger gene: SAMHD1 was added gene: SAMHD1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SAMHD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome; Chillblain lupus |
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