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Prepair 1000+

Gene: WHRN

Green List (high evidence)
WHRN (whirlin)
EnsemblGeneIds (GRCh38): ENSG00000095397
EnsemblGeneIds (GRCh37): ENSG00000095397
OMIM: 607928, Gene2Phenotype
WHRN is in 10 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa.

Multiple transcripts with differential tissue expression exist for WHRN which are thought to explain the basis for distinct phenotypes. The long transcript is expressed in the retina, vestibule and cochlea, whereas the C-terminal transcript is expressed exclusively in the cochlea and vestibule and the N-terminal transcript is expressed exclusively in the retina (Ebrahim et al. 2016, PMID: 27117407).

Association with Usher syndrome: DEFINITIVE by ClinGen, multiple families and animal models. Of note, the Whrn(neo/neo) mouse model, in which the N-terminal and long transcripts are ablated, leads to Usher syndrome (Mather et al. 2015, PMID: 26307081).

Also associated with non-syndromic hearing loss - however, not screening for this currently on RGCS.
Nonsyndromic genetic hearing loss MONDO:0019497 Currently moderate classification on ClinGen.
Created: 12 Dec 2024, 3:16 a.m. | Last Modified: 12 Dec 2024, 3:16 a.m.
Panel Version: 1.730

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 2D MIM#611383

Publications

Created: 12 Dec 2024, 3:16 a.m.
Last Modified: 12 Dec 2024, 3:16 a.m.
Panel version: 1.730

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Usher syndrome, type 2D, MIM#611383
OMIM
607928
Clinvar variants
Variants in WHRN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WHRN were changed from Usher syndrome, type 2D, 611383 (3) to Usher syndrome, type 2D, MIM#611383

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WHRN were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Usher syndrome, type 2D, 611383 (3) for gene: WHRN

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: WHRN was added gene: WHRN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383 (3)