Disorders of sex development

Gene: DMRT1

Red List (low evidence)

DMRT1 (doublesex and mab-3 related transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000137090
EnsemblGeneIds (GRCh37): ENSG00000137090
OMIM: 602424, Gene2Phenotype
DMRT1 is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

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.

John Achermann (UCL Institute of Child Health)

Red List (low evidence)

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


Mode of Inheritance
  • Expert Review Red
  • Gender Assignment Gene Panel (UKGTN)
Clinvar variants
Variants in DMRT1
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

1 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Nov 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DMRT1 were set to 26139570

23 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene DMRT1 were set to Gender Assignment Gene Panel (UKGTN)

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DMRT1 was added to Disorders of sex developmentpanel. Sources: UKGTN

11 Jan 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

DMRT1 was created by ellenmcdonagh