Deafness_Isolated
Gene: GPR156EnsemblGeneIds (GRCh38): ENSG00000175697
EnsemblGeneIds (GRCh37): ENSG00000175697
OMIM: 610464, Gene2Phenotype
GPR156 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 121, MIM# 620551
Anna Ritchie (Victorian Clinical Genetics Services)
Eight affected individuals from three unrelated families all had congenital nonsyndromic bilateral sensorineural hearing loss. Homozygous and compound heterozygous loss of function variants were reported in these families.
Sources: LiteratureCreated: 4 May 2023, 2:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sensorineural hearing loss, MONDO:60700002, GPR156-related
Publications
- PMID: 36928819
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Deafness, autosomal recessive 121, MIM# 620551
- OMIM
- 610464
- Clinvar variants
- Variants in GPR156
- Penetrance
- None
- Publications
-
- PMID: 36928819
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GPR156 were changed from Sensorineural hearing loss, MONDO:60700002, GPR156-related to Deafness, autosomal recessive 121, MIM# 620551
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gpr156 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gpr156 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Anna Ritchie (Victorian Clinical Genetics Services)gene: GPR156 was added gene: GPR156 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: GPR156 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPR156 were set to PMID: 36928819 Phenotypes for gene: GPR156 were set to Sensorineural hearing loss, MONDO:60700002, GPR156-related