Activity
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4 actions
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| Severe microcephaly v8.46 | WDHD1 | Achchuthan Shanmugasundram Classified gene: WDHD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.46 | WDHD1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are >10 unrelated families reported with severe microcephaly and with biallelic WDHD1 variants. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.46 | WDHD1 | Achchuthan Shanmugasundram Gene: wdhd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.45 | WDHD1 |
Achchuthan Shanmugasundram gene: WDHD1 was added gene: WDHD1 was added to Severe microcephaly. 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 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. 12 of these patients had an OFC at a Z-score of -3 or lower at either birth or last examination. 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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