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Prepair 1000+

Gene: USH2A

Green List (high evidence)

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

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.
Created: 6 Mar 2025, 2:35 a.m. | Last Modified: 6 Mar 2025, 2:35 a.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 2A, 276901 (3)

Publications

Details

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Usher syndrome, type 2A, 276901 (3) for gene: USH2A

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: USH2A was added gene: USH2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901 (3)