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  2. Photosensitivity Syndromes
  3. UVSSA
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Photosensitivity Syndromes

Gene: UVSSA

Green List (high evidence)
UVSSA (UV stimulated scaffold protein A)
EnsemblGeneIds (GRCh38): ENSG00000163945
EnsemblGeneIds (GRCh37): ENSG00000163945
OMIM: 614632, Gene2Phenotype
UVSSA is in 2 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 4 different variants have previously been reported. The condition is characterised by photosensitivity, and hyperpigmentation, freckling, and dryness of sun exposed areas

PMID: 31421932: Single nonsense variant reported in 2 Pakistani families with UV-sensitive syndrome. Also reviews previously published variants.
Sources: Expert Review
Created: 22 Jul 2020, 12:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
UV-sensitive syndrome 3 (MIM#614640)

Publications

Created: 22 Jul 2020, 12:37 a.m.

Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • UV-sensitive syndrome 3 (MIM#614640)
OMIM
614632
Clinvar variants
Variants in UVSSA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uvssa has been classified as Green List (High Evidence).

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uvssa has been classified as Green List (High Evidence).

22 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: UVSSA was added gene: UVSSA was added to Photosensitivity Syndromes. Sources: Expert Review Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UVSSA were set to 31421932 Phenotypes for gene: UVSSA were set to UV-sensitive syndrome 3 (MIM#614640) Review for gene: UVSSA was set to GREEN