Activity
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| Fetal anomalies v6.189 | WDHD1 | Achchuthan Shanmugasundram Classified gene: WDHD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.189 | WDHD1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Foetal abnormalities were reported in 14 unrelated families with biallelic WDHD1 variants. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.189 | WDHD1 | Achchuthan Shanmugasundram Gene: wdhd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.188 | WDHD1 |
Achchuthan Shanmugasundram gene: WDHD1 was added gene: WDHD1 was added to Fetal anomalies. Sources: Literature Q2_26_promote_green tags were added to gene: WDHD1. Mode of inheritance for gene: WDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDHD1 were set to 41962535 Phenotypes for gene: WDHD1 were set to microcephalic osteodysplastic primordial dwarfism, MONDO:0000060; Intrauterine growth retardation, HP:0001511 Review for gene: WDHD1 was set to GREEN Added comment: PMID:41962535 (2026) reported the identification of biallelic hypomorphic variants in WDHD1 gene in 17 patients from 14 families with microcephalic primordial dwarfism (MPD) and a broad spectrum of additional abnormalities including acute liver failure. IUGR and/ or other foetal abnormalities such as microcephaly and oligohydramnios were reported in all cases. Four cases from three families had prenatal death or termination of pregnancy. There is also functional evidence available from patient-derived fibroblasts which supports the disease association. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype (records last accessed 14 April 2026). Sources: Literature |
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