Deafness_Isolated
Gene: TOGARAM2EnsemblGeneIds (GRCh38): ENSG00000189350
EnsemblGeneIds (GRCh37): ENSG00000189350
TOGARAM2 is in 2 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
Paper reports one individual with bilateral profound hearing loss with a homozygous TOGARAM2 nonsense variant and demonstrated reduced mRNA expression in transfected cells.
Sources: LiteratureCreated: 7 Mar 2024, 12:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related
Publications
- PMID:38374469
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related
- Clinvar variants
- Variants in TOGARAM2
- Penetrance
- None
- Publications
-
- PMID:38374469
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: togaram2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: togaram2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Naomi Baker (Victorian Clinical Genetics Services)gene: TOGARAM2 was added gene: TOGARAM2 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: TOGARAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM2 were set to PMID:38374469 Phenotypes for gene: TOGARAM2 were set to Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related Review for gene: TOGARAM2 was set to RED