Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Differences of Sex Development v1.6 DMRT1 Zornitza Stark Publications for gene: DMRT1 were set to PMID: 31479588; 24934491; 29527098
Differences of Sex Development v1.5 DMRT1 Zornitza Stark Phenotypes for gene: DMRT1 were changed from Azoospermia to 46,XY disorder of sex development, MONDO:0020040
Differences of Sex Development v1.4 DMRT1 Zornitza Stark Classified gene: DMRT1 as Amber List (moderate evidence)
Differences of Sex Development v1.4 DMRT1 Zornitza Stark Gene: dmrt1 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v1.2 DMRT1 Tashunka Taylor-Miller reviewed gene: DMRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26005864, 28295047; Phenotypes: http://purl.obolibrary.org/obo/MONDO_0020040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.92 DMRT1 Zornitza Stark Marked gene: DMRT1 as ready
Differences of Sex Development v0.92 DMRT1 Zornitza Stark Gene: dmrt1 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.92 DMRT1 Zornitza Stark Classified gene: DMRT1 as Red List (low evidence)
Differences of Sex Development v0.92 DMRT1 Zornitza Stark Gene: dmrt1 has been classified as Red List (Low Evidence).
Differences of Sex Development v0.72 DMRT1 Elena Savva 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
Added comment: 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