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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. USH2A
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: USH2A

Green List (high evidence)
USH2A (usherin)
EnsemblGeneIds (GRCh38): ENSG00000042781
EnsemblGeneIds (GRCh37): ENSG00000042781
OMIM: 608400, Gene2Phenotype
USH2A is in 11 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID 20507924: Screened the long isoform of USH2A in 80 patients with nonsyndromic autosomal recessive RP and identified at least 1 deleterious mutation in 19% of cases. The authors stated that their findings supported USH2A as the most common known cause of RP in the United States.

Well established gene-disease association - Usher syndrome, DEFINITIVE by ClinGen.

https://www.ncbi.nlm.nih.gov/books/NBK1341/, PMID 17296898, ClinVar
Reports of cosegregation of Usher Syndrome and Retinitis Pigmentosa
Created: 21 Mar 2022, 11:16 p.m. | Last Modified: 21 Mar 2022, 11:16 p.m.
Panel Version: 0.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 39, MIM#613809

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Mar 2022, 11:16 p.m.
Last Modified: 21 Mar 2022, 11:16 p.m.
Panel version: 0.109

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 39, 613809
  • Usher syndrome, type 2A, 276901
OMIM
608400
Clinvar variants
Variants in USH2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ush2a has been classified as Green List (High Evidence).

22 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: USH2A were set to

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: USH2A was added gene: USH2A was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USH2A were set to Retinitis pigmentosa 39, 613809; Usher syndrome, type 2A, 276901