Hearing lossGene: THOC1
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
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.
Created: 5 Oct 2020, 9:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Nonsyndromic hearing loss
Phenotypes for gene: THOC1 were changed from Nonsyndromic hearing loss to Nonsyndromic hearing loss; nonsyndromic genetic deafness MONDO:0019497
Gene: thoc1 has been classified as Amber List (Moderate Evidence).
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