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| Mendeliome v1.4891 | DRD1 | Chirag Patel Marked gene: DRD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4891 | DRD1 | Chirag Patel Gene: drd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4891 | DRD1 | Chirag Patel Classified gene: DRD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4891 | DRD1 | Chirag Patel Gene: drd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4890 | DRD1 |
Chirag Patel gene: DRD1 was added gene: DRD1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRD1 were set to 41966088; 37048120 Phenotypes for gene: DRD1 were set to Neurodevelopmental disorder, MONDO:0700092, DRD1-related Review for gene: DRD1 was set to GREEN Added comment: PMID 41966088 and 37048120 reports 9 individuals from 4 unrelated consanguineous families with rare homozygous DRD1 missense variants (p.Thr37Met, p.Asp103Asn, p.Tyr37Lys). The clinical presentation was infantile‑onset generalized dystonia, axial hypotonia and severe neurodevelopmental impairment. Parents were heterozygous carriers in each family. Variant‑specific live‑cell functional assays demonstrate loss‑of‑function and partial rescue, supporting pathogenicity. Sources: Literature |
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| Mendeliome v1.4837 | TDRD12 | Zornitza Stark Publications for gene: TDRD12 were set to 40750267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4836 | TDRD12 | Zornitza Stark Classified gene: TDRD12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4836 | TDRD12 | Zornitza Stark Gene: tdrd12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4492 | TDRD12 | Sarah Milton reviewed gene: TDRD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 40750267, 39122675; Phenotypes: Spermatogenic failure, MONDO:0004983, TDRD12-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2960 | TDRD12 | Zornitza Stark Marked gene: TDRD12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2960 | TDRD12 | Zornitza Stark Gene: tdrd12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2960 | TDRD12 | Zornitza Stark Classified gene: TDRD12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2960 | TDRD12 | Zornitza Stark Gene: tdrd12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2959 | TDRD12 |
Zornitza Stark gene: TDRD12 was added gene: TDRD12 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TDRD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TDRD12 were set to 40750267 Phenotypes for gene: TDRD12 were set to Spermatogenic failure, MONDO:0004983, TDRD12-related Review for gene: TDRD12 was set to AMBER Added comment: Two novel homozygous TDRD12 variants (c.3378dupG and c.2463C>G) reported in two unrelated infertile men, respectively. Patient 1 had a TDRD12 frameshift mutation (c.3378dupG), resulting in a truncated protein lacking the cysteine-rich domain. This individual presented with teratozoospermia, characterized by abnormal sperm morphology, including defects in the head and flagellum. Patient 2 had a TDRD12 nonsense mutation (c.2463C>G), resulting in complete degradation of the protein. This individual exhibited azoospermia, characterized by germ cell maturation arrest at the spermatocyte stage. Sources: Literature |
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