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Hearing loss

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 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Changing rating from grey to amber. Two families reported. Same variant in each. Both northern european decent.
Created: 8 Sep 2020, 10:42 p.m. | Last Modified: 8 Sep 2020, 10:42 p.m.
Panel Version: 2.60
Comment on mode of inheritance: Changing to imprinted status unknown. In one family the trait had been passed through the maternal side for two generations, but more evidence needed before saying paternally imprinted.
Created: 8 Sep 2020, 10:41 p.m. | Last Modified: 8 Sep 2020, 10:41 p.m.
Panel Version: 2.58
Not associated with a phenotype in OMIM.

PMID: 29671961- Guillen‐Ahlers et al 2018 - report a mother and son with of Northern European descent (mother and son) with Sensorineural hearing loss were found by exome sequencing to share a variant (rs35725509, missense variant) in the TMTC2 gene. This variant showed a minor allele frequency below 1% in 2,203 individuals of European American (EA) ancestry (NHLBI GO Exome Sequencing Project. In two generations, the trait has been passed through the maternal side


PMID: 27311106 - Runge et al 2016 - report a large multigenerational Northern European family in which 9 family members had bilateral, symmetric, progressive Sensorineural hearing loss that reached severe to profound loss in childhood. Using exome sequencing and linkage and association analyses they identified a fully penetrant sequence variant (rs35725509) in the TMTC2 gene region. The variant segregates with SNHL in the family. However, the mutation is found in a relatively high percentage of individuals of Northern European descent in the 1000 Genomes and Exome Sequencing (http://evs.gs.washington.edu/EVS/) European call sets (1% and 0.8%, respectively).
Created: 8 Sep 2020, 10:36 p.m. | Last Modified: 8 Sep 2020, 10:40 p.m.
Panel Version: 2.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Sensorineural hearing loss

Publications

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, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Deafness
  • Sensorineural hearing loss
OMIM
615856
Clinvar variants
Variants in TMTC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

8 Sep 2020, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TMTC2 were changed from Deafness to Deafness; Sensorineural hearing loss

8 Sep 2020, Gel status: 0

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: TMTC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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