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| Differences in sex development v4.12 | DMRT1 | Sarah Leigh Publications for gene: DMRT1 were set to 11870074; 26139570; 24934491; 39936125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.11 | DMRT1 | Sarah Leigh edited their review of gene: DMRT1: Added comment: Variants affecting DMRT1 have been reported in cases with 46,XY disorders/differences of sex development. PMID: 24934491 reports NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser) in 2 unrelated azoospermic men with complete bilateral Sertoli cell-only syndrome and decreased testicular volume by ultrasound. PMID: 26139570 reports NM_021951.2 c.-223_-219CGAAA>T in the promoter of DMRT1, which is a region shown to be involved in the repression of Dmrt1 expression in rat and mouse Sertoli cells (PMID:11870074). Therefore this promoter variants could result in disruption of DMRT1 regulation. PMID: 39936125 reports four different deletions, which all encompass the DMRT1 region (9p24.3p23 - 9p24) in four unrelated cases with gonadal dysgenesis and .; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.11 | DMRT1 | Sarah Leigh Added comment: Comment on publications: PMID: 39936125 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.11 | DMRT1 | Sarah Leigh Publications for gene: DMRT1 were set to 26139570; 24934491; 39936125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.10 | DMRT1 | Sarah Leigh Classified gene: DMRT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.10 | DMRT1 | Sarah Leigh Gene: dmrt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.9 | DMRT1 | Sarah Leigh Phenotypes for gene: DMRT1 were changed from Gender Assignment Gene Panel (UKGTN) to 46,XY disorders/differences of sex development | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.8 | DMRT1 | Sarah Leigh Publications for gene: DMRT1 were set to 26139570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development v4.7 | DMRT1 | Sarah Leigh Mode of inheritance for gene: DMRT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development | DMRT1 | Sarah Leigh marked DMRT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences in sex development | DMRT1 | Sarah Leigh commented on DMRT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||