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  3. TMEM43
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Deafness_Isolated

Gene: TMEM43

Amber List (moderate evidence)
TMEM43 (transmembrane protein 43)
EnsemblGeneIds (GRCh38): ENSG00000170876
EnsemblGeneIds (GRCh37): ENSG00000170876
OMIM: 612048, Gene2Phenotype
TMEM43 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

15 individuals reported from two families with missense variants and deafness.
Sources: Literature
Created: 12 Aug 2022, 1:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Auditory neuropathy, autosomal dominant 3, MIM# 619832

Publications

Created: 12 Aug 2022, 1:09 a.m.

Panel version: 1.35

History Filter Activity

12 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem43 has been classified as Amber List (Moderate Evidence).

12 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem43 has been classified as Amber List (Moderate Evidence).

12 Aug 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM43 was added gene: TMEM43 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM43 were set to 34050020 Phenotypes for gene: TMEM43 were set to Auditory neuropathy, autosomal dominant 3, MIM# 619832 Review for gene: TMEM43 was set to AMBER