Differences of Sex Development
Gene: DMRT1
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: 26005864Created: 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
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 listCreated: 15 Jul 2020, 2:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Azoospermia
Publications
Publications for gene: DMRT1 were set to PMID: 31479588; 24934491; 29527098
Phenotypes for gene: DMRT1 were changed from Azoospermia to 46,XY disorder of sex development, MONDO:0020040
Gene: dmrt1 has been classified as Amber List (Moderate Evidence).
Gene: dmrt1 has been classified as Red List (Low Evidence).
Gene: dmrt1 has been classified as Red List (Low Evidence).
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