| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||