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Mendeliome

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 variants/families reported with the associated condition.
Created: 22 Jul 2020, 12:41 a.m. | Last Modified: 22 Jul 2020, 12:41 a.m.
Panel Version: 0.3442

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
UV-sensitive syndrome 3 (MIM#614640)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UVSSA were changed from to UV-sensitive syndrome 3 (MIM#614640)

22 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UVSSA were set to

22 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UVSSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UVSSA was added gene: UVSSA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UVSSA was set to Unknown