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Deafness_IsolatedAndComplex
Gene: TMTC2

TMTC2 (transmembrane and tetratricopeptide repeat containing 2)
EnsemblGeneIds (GRCh38): ENSG00000179104
EnsemblGeneIds (GRCh37): ENSG00000179104
OMIM: 615856, Gene2Phenotype
TMTC2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported with bi-allelic variants. Mouse model.
Created: 19 Feb 2024, 9:29 a.m. | Last Modified: 19 Feb 2024, 9:29 a.m.

Panel Version: 1.168

Two independent families reported, no functional evidence.
Created: 21 Nov 2019, 9:15 a.m. | Last Modified: 21 Nov 2019, 9:15 a.m.

Panel Version: 0.0

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 122, MIM# 620714

Publications

Created: 21 Nov 2019, 9:15 a.m.
Last Modified: 21 Nov 2019, 9:15 a.m.
Panel version: 1.168

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal dominant
Deafness, autosomal recessive 122, MIM# 620714

OMIM

Clinvar variants

Variants in TMTC2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Feb 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMTC2 were changed from Deafness, autosomal dominant to Deafness, autosomal dominant; Deafness, autosomal recessive 122, MIM# 620714

19 Feb 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMTC2 were set to

19 Feb 2024, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMTC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMTC2 were changed from to Deafness, autosomal dominant

21 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmtc2 has been classified as Amber List (Moderate Evidence).

21 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmtc2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMTC2 was added gene: TMTC2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: TMTC2 was set to Unknown