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Hearing loss

Gene: TMTC2

No list

TMTC2 (transmembrane and tetratricopeptide repeat containing 2)
EnsemblGeneIds (GRCh38): ENSG00000179104
EnsemblGeneIds (GRCh37): ENSG00000179104
OMIM: 615856, Gene2Phenotype
TMTC2 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated families reported, no functional evidence.
Sources: Expert list
Created: 2 Jan 2020, 5:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Deafness

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
Phenotypes
  • Deafness
OMIM
615856
Clinvar variants
Variants in TMTC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TMTC2 was added gene: TMTC2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: TMTC2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: TMTC2 were set to 29671961; 27311106 Phenotypes for gene: TMTC2 were set to Deafness Review for gene: TMTC2 was set to AMBER