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| Intellectual disability v9.395 | WDR91 | Ida Ertmanska Phenotypes for gene: WDR91 were changed from Abnormal brain morphology, HP:0012443 to Abnormal brain morphology, HP:0012443; Neurodevelopmental delay, HP:0012758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.394 | WDR91 | Ida Ertmanska Classified gene: WDR91 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.394 | WDR91 | Ida Ertmanska Added comment: Comment on list classification: There are 2 unrelated individuals reported in literature with biallelic WDR91 variants and syndromic neurodevelopmental delay. Animal models support the role of WDR91 in neuronal development and function. Mice lacking Wdr91 exhibited behavioural defects. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.394 | WDR91 | Ida Ertmanska Gene: wdr91 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.393 | WDR91 |
Ida Ertmanska gene: WDR91 was added gene: WDR91 was added to Intellectual disability. Sources: Literature Q2_26_promote_green tags were added to gene: WDR91. Mode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR91 were set to 32732226; 34028500; 34791078; 38041506; 40550703 Phenotypes for gene: WDR91 were set to Abnormal brain morphology, HP:0012443 Review for gene: WDR91 was set to GREEN Added comment: PMID: 32732226 Lefebvre et al., 2021 Homozygous variant WDR91 c.240C>G, p.(Tyr80*) detected in a male fetus with hygroma, macrocephaly, abnormal ears, cerebellar hypoplasia, and hydrocephaly. Concordant segregation among 4 affected fetus, 2 healthy sibs, and both parents. PMID: 34791078 Kurul et al., 2022 Large study, trio exome seq of consanguineous families with neurogenetic diseases. FMAL006_01 - female patient with 'brain malformation' was homozygous for WDR91 c.1395+1G>A. No more details provided. PMID: 38041506 Rosina et al., 2024 Case 75 - male, 3yrs 5mo, homozygous for WDR91 NM_014149.4:c.511+1A>G. Phenotype: severe developmental delay, microcephaly, severe microlissencephaly, agenesis of corpus callosum, epilepsy, spastic tetraparesis, laryngomalacia, bicuspid aortic valve, congenital hip dislocation, growth retardation, dysmorphisms. PMID: 40550703 Marinakis et al., 2026 Consanguineous Syrian family. Proband (4mo female) presented with severe microcephaly, dysmorphic features, organomegaly, early onset psychomotor delay, hypotonia, sensorineural hearing impairment, and visual impairment. Brain MRI revealed bilateral cerebral hemisphere hypoplasia with incomplete sulcation, agenesis of the corpus callosum, suspected bilateral periventricular heterotopias. WES identified a homozygous splice site variant, WDR91 NM_014149.4: c.1395+1G>A (same as in PMID: 34791078, but NOT the same patient). Functional: PMID: 34028500 Xing et al., 2021 - Mice lacking Wdr91 specifically in the central nervous system exhibited behavioral defects and marked neuronal loss in the cerebral and cerebellar cortices. At a cellular level, Wdr91 deficiency caused dysfunction of lysosomes, leading to accumulation of autophagic cargoes in mouse neurons. WDR91 is not yet associated with a phenotype in OMIM, G2P, or ClinGen (accessed 22nd Apr 2026). Sources: Literature |
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