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  3. THOC1
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Deafness_IsolatedAndComplex

Gene: THOC1

Amber List (moderate evidence)
THOC1 (THO complex 1)
EnsemblGeneIds (GRCh38): ENSG00000079134
EnsemblGeneIds (GRCh37): ENSG00000079134
OMIM: 606930, Gene2Phenotype
THOC1 is in 2 panels

1 review

Melanie Marty (Victorian Clinical Genetics Services)

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, 4:52 a.m. | Last Modified: 5 Oct 2020, 4:59 a.m.
Panel Version: 0.587

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nonsyndromic hearing loss

Publications

Created: 5 Oct 2020, 4:52 a.m.
Last Modified: 5 Oct 2020, 4:59 a.m.
Panel version: 0.586

Details

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

History Filter Activity

5 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Melanie Marty (Victorian Clinical Genetics Services)

gene: THOC1 was added gene: THOC1 was added to Deafness_IsolatedAndComplex. 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