Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: USH2A
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 PigmentosaCreated: 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
Gene: ush2a has been classified as Green List (High Evidence).
Publications for gene: USH2A were set to
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