1. Panels
  2. Deafness_Isolated
  3. TMTC2
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_Isolated

Gene: TMTC2

Amber List (moderate evidence)
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, 9:32 a.m. | Last Modified: 19 Feb 2024, 9:32 a.m.
Panel Version: 1.50
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 dominant; 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: 1.50

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant
  • Deafness, autosomal recessive 122, MIM# 620714
OMIM
615856
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 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 29671961; 27311106

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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 Oct 2020, 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).

3 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMTC2 were changed from to Deafness

3 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMTC2 were set to

3 Oct 2020, 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Jul 2020, Gel status: 2

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