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| Paediatric disorders - additional genes v7.49 | WDHD1 | Achchuthan Shanmugasundram Classified gene: WDHD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.49 | WDHD1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are 14 unrelated families reported with biallelic WDHD1 variants and presenting with microcephalic primordial dwarfism (MPD) and a broad spectrum of additional abnormalities. Hence, this gene can be promoted to green rating in the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.49 | WDHD1 | Achchuthan Shanmugasundram Gene: wdhd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.48 | WDHD1 | Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: WDHD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.48 | WDHD1 |
Achchuthan Shanmugasundram gene: WDHD1 was added gene: WDHD1 was added to Paediatric disorders - additional genes. Sources: Literature 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. All patients had severe IUGR and microcephaly. The phenotypes in ten patients homozygous for the c.1769−1G>C variant was broad, ranging from foetal lethality to MPD with mild to moderate developmental delay and additional clinical features including severe malformations of multiple organs likely contributing to intrauterine death. The five patients that survived to birth but died as neonates had severe hepatic abnormalities, with acute liver failure (ALF) as the cause of death in four. Among the seven living subjects, two were homozygous for the c.1769−1G>C variant, while the remaining subjects were compound heterozygous, with combinations of a loss-of-function allele and an intronic or missense variant or two non-coding variants. The most common clinical features among them were postnatal growth retardation, feeding difficulties, developmental delay, a small face with a bulbous nose and retrognathia, a high-pitched voice, and hip dislocation. 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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