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| Infertility and Recurrent Pregnancy Loss v0.14 | DMRT1 | Zornitza Stark Marked gene: DMRT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.14 | DMRT1 | Zornitza Stark Gene: dmrt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.14 | DMRT1 | Zornitza Stark Phenotypes for gene: DMRT1 were changed from to Azoospermia, MONDO:0100459, DMRT1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.13 | DMRT1 | Zornitza Stark Classified gene: DMRT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.13 | DMRT1 | Zornitza Stark Gene: dmrt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | DMRT1 | Zornitza Stark commented on gene: DMRT1: Rare variants enriched in azoospermia cohorts. However, variants are missense, pathogenicity more difficult to determine in the absence of segregation or other data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | DMRT1 | Zornitza Stark reviewed gene: DMRT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Azoospermia, MONDO:0100459, DMRT1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | DMRT1 |
Jasmine Chew gene: DMRT1 was added gene: DMRT1 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: DMRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DMRT1 were set to 26139570; 38511217; 39777458 Review for gene: DMRT1 was set to GREEN Added comment: Literature in OMIM- PMID: 26139570 New papers: i) PMID: 38511217- heterozygous missense variant (K68N) in a Japanese man (case 13) with non-obstructive azoospermia (NOA) ii)PMID: 39777458- heterozygous missense variant (p.Pro74Leu) in two infertile Croatian brothers with NOA in the highly conserved position within the DNA binding DM domain of the protein, and EMSA assay showed reduced DNA binding of DMRT1P74L and molecular dynamic simulations showed differences in structural and dynamical properties between the wild type protein and DMRT1P74L. Also identified additional nine infertile men with idiopathic NOA or severe oligozoospermia as carriers of missense variants (see Table 2) located in critical functional domains of DMRT1. Note: couldn't access MONDO # as website down (phenotypes to be updated) Sources: Literature |
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