Cutaneous photosensitivity with a likely genetic cause
Gene: UVSSAAdded UVSSA as a Green gene to the 'Cutaneous photosensitivity with a likely genetic cause' panel, as suggested by Anna de Burca and Ellen Thomas, because the Testing Criteria uses hydroa vacciniforme as an example condition for Clinical Indication R237. UVSSA is currently the only Green gene on the Hydroa vacciniforme panel (panel #310), and I have therefore copied over the review for UVSSA from the V1.2 'Hydroa vacciniforme' panel.
Sources: OtherCreated: 17 Apr 2019, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
UV-sensitive syndrome 3, 614640
Publications
Comment on list classification: 4 families with UV-sensitive syndrome have had biallelic mutations in this gene. This could overlap with hydroa vacciniforme.Created: 29 Jan 2016, 5:43 p.m.
Gene: uvssa has been classified as Green List (High Evidence).
gene: UVSSA was added gene: UVSSA was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Other Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UVSSA were set to 22466610 Phenotypes for gene: UVSSA were set to UV-sensitive syndrome 3, 614640