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Hearing loss

Gene: THOC1

Amber List (moderate evidence)

THOC1 (THO complex 1)
EnsemblGeneIds (GRCh38): ENSG00000079134
EnsemblGeneIds (GRCh37): ENSG00000079134
OMIM: 606930, Gene2Phenotype
THOC1 is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Following review from Zornitza Stark changing the rating of THOC1 from grey to amber as there is one large family plus functional data to support the proposal that a variant in THOC1 is associated with hearing loss.
Created: 25 Nov 2020, 5:07 p.m. | Last Modified: 25 Nov 2020, 5:07 p.m.
Panel Version: 2.121

Zornitza Stark (Australian Genomics)

I don't know

Missense variant identified and segregated with adult-onset hearing loss in 9 affected family members. 12 unaffected individuals also tested.
Functional studies showed THOC1 was expressed in mouse and zebrafish hair cells. Furthermore, thoc1 deficiency caused the reduction of hair cell numbers in zebrafish and the hypomorphic thoc1 in mouse induced hair cell apoptosis.
Sources: Literature
Created: 5 Oct 2020, 9:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nonsyndromic hearing loss

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Nonsyndromic hearing loss
  • nonsyndromic genetic deafness MONDO:0019497
OMIM
606930
Clinvar variants
Variants in THOC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2020, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: THOC1 were changed from Nonsyndromic hearing loss to Nonsyndromic hearing loss; nonsyndromic genetic deafness MONDO:0019497

25 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: thoc1 has been classified as Amber List (Moderate Evidence).

5 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: THOC1 was added gene: THOC1 was added to Hearing loss. Sources: Literature Mode of inheritance for gene: THOC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THOC1 were set to 32776944 Phenotypes for gene: THOC1 were set to Nonsyndromic hearing loss Review for gene: THOC1 was set to AMBER