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| 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 |
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