Differences of Sex Development

Gene: DMRT1

Amber List (moderate evidence)

DMRT1 (doublesex and mab-3 related transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000137090
EnsemblGeneIds (GRCh37): ENSG00000137090
OMIM: 602424, Gene2Phenotype
DMRT1 is in 2 panels

2 reviews

Tashunka Taylor-Miller (Victorian Clinical Genetics Services)

I don't know

DMRT1 gene exclusively expressed in male gonads. Thought not to affect ovarian development.
Gene included three international studies - see PMID: 28295047 supplemental article Fig 1
patient 19, 46XY with hypoplastic labia, uterus present had DMRT1 c.251A>G p.Tyr84Cys maternally inherited VOUS identified
missense mutations p.R111G also described in complete gonadal dysgenesis - see PMID: 26005864
Created: 30 Jan 2025, 12:02 a.m. | Last Modified: 30 Jan 2025, 12:02 a.m.
Panel Version: 1.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
http://purl.obolibrary.org/obo/MONDO_0020040

Publications

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 31479588 - 1 patient with azoospermia and XY genotype. Also carries an additional variant in KLHL10

PMID: 24934491 - 6 patients with male infertility, however the 4 identified variants were also found in 2 controls and have a high frequency in the population (gnomAD). No functional studies.

PMID: 23555275 - Identifies CNVs in azoospermia patients, calls the gene a risk factor
Sources: Expert list
Created: 15 Jul 2020, 2:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Azoospermia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • 46,XY disorder of sex development, MONDO:0020040
OMIM
602424
Clinvar variants
Variants in DMRT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2025, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DMRT1 were set to PMID: 31479588; 24934491; 29527098

30 Jan 2025, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DMRT1 were changed from Azoospermia to 46,XY disorder of sex development, MONDO:0020040

30 Jan 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dmrt1 has been classified as Amber List (Moderate Evidence).

15 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dmrt1 has been classified as Red List (Low Evidence).

15 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dmrt1 has been classified as Red List (Low Evidence).

15 Jul 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: DMRT1 was added gene: DMRT1 was added to Disorders of Sex Differentiation. Sources: Expert list Mode of inheritance for gene: DMRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DMRT1 were set to PMID: 31479588; 24934491; 29527098 Phenotypes for gene: DMRT1 were set to Azoospermia Review for gene: DMRT1 was set to RED