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  3. TMEM132E
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Deafness_Isolated

Gene: TMEM132E

Amber List (moderate evidence)
TMEM132E (transmembrane protein 132E)
EnsemblGeneIds (GRCh38): ENSG00000181291
EnsemblGeneIds (GRCh37): ENSG00000181291
OMIM: 616178, Gene2Phenotype
TMEM132E is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported, supportive animal model.
Sources: Expert list
Created: 1 Jan 2020, 10:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 99, MIM# 618481

Publications

Created: 1 Jan 2020, 10:44 p.m.

Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.166

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 99, MIM# 618481
OMIM
616178
Clinvar variants
Variants in TMEM132E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem132e has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM132E was added gene: TMEM132E was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: TMEM132E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM132E were set to 25331638 Phenotypes for gene: TMEM132E were set to Deafness, autosomal recessive 99, MIM# 618481