Disorders of sex developmentGene: DMRT1
Comment when marking as ready: Not associated with phenotype in OMIM or G2P. Probably involved in spermatogenesis, (from animal studies), but so far too few variants reported.
Created: 1 Nov 2016, 2:04 p.m.
Very rare cause of gonadal dysgenesis. More often due to monosomic deletion of Chr 9. Point mutants may have dominant negative effect.
Created: 4 Feb 2016, 4:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Promoted to V1 21/12/2016
This gene has been classified as Red List (Low Evidence).
Publications for DMRT1 were set to 26139570
Phenotypes for gene DMRT1 were set to Gender Assignment Gene Panel (UKGTN)
DMRT1 was added to Disorders of sex developmentpanel. Sources: UKGTN
DMRT1 was created by ellenmcdonagh