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  2. Hydroa vacciniforme
  3. UVSSA
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Hydroa vacciniforme

Gene: UVSSA

Green List (high evidence)
UVSSA (UV stimulated scaffold protein A)
EnsemblGeneIds (GRCh38): ENSG00000163945
EnsemblGeneIds (GRCh37): ENSG00000163945
OMIM: 614632, Gene2Phenotype
UVSSA is in 5 panels

1 review

Ellen Thomas (Genomics England Curator)

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.
Created: 29 Jan 2016, 5:43 p.m.

Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • UV-sensitive syndrome 3, 614640
OMIM
614632
Clinvar variants
Variants in UVSSA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for UVSSA were set to PubMed: 22466610

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for UVSSA was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

UVSSA was added to Hydroa Vacciniforme panel. Sources: Radboud University Medical Center, Nijmegen