Activity
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| Intellectual disability v9.309 | WDR83 | Ida Ertmanska edited their review of gene: WDR83: Changed publications to: 19726548, 28332277, 37509073, 41381792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.309 | WDR83 |
Ida Ertmanska changed review comment from: PMID: 41381792 Tabata et al., 2025 7yo Japanese female patient presenting with global developmental delay, intellectual disability, microcephaly, and dysmorphic features. Brain MRI at 7 months showed enlarged bilateral ventricles. WES detected a de novo heterozygous WDR83 variant [NM_001099737; c.653 T > C,p.(L218P)]. Functional: Overexpression of WDR83-L218P in mice via in utero electroporation led to reduced proliferation of neural stem cells. Suggested GOF mechanism of disease. PMID: 28332277 Kim et al., 2017 ADHD proband with de novo heterozygous WDR83 p.Gly127Arg variant (MAF = 0.000002542 in gnomAD v4) PMID: 37509073 Wulf et al., 2023 - Homozygous Wdr83 knockout (KO) mice die around embryonic day 11 due to severe defects in cell proliferation and massive apoptosis. PMID: 19726548 Hammerschmidt, Loeffler & Wolf, 2009 - Heterozygous Wdr83+/- mice display a normal phenotype, with no apparent abnormalities in brain structure or cerebral vascular architecture Sources: Literature; to: PMID: 41381792 Tabata et al., 2025 7yo Japanese female patient presenting with global developmental delay, intellectual disability, microcephaly, and dysmorphic features. Brain MRI at 7 months showed enlarged bilateral ventricles. WES detected a de novo heterozygous WDR83 variant [NM_001099737; c.653 T > C,p.(L218P)]. Functional: Overexpression of WDR83-L218P in mice via in utero electroporation led to reduced proliferation of neural stem cells. Suggested GOF mechanism of disease. PMID: 28332277 Kim et al., 2017 ADHD proband with de novo heterozygous WDR83 p.Gly127Arg variant (MAF = 0.000002542 in gnomAD v4) PMID: 37509073 Wulf et al., 2023 - Homozygous Wdr83 knockout (KO) mice die around embryonic day 11 due to severe defects in cell proliferation and massive apoptosis. PMID: 19726548 Hammerschmidt, Loeffler & Wolf, 2009 - Heterozygous Wdr83+/- mice display a normal phenotype, with no apparent abnormalities in brain structure or cerebral vascular architecture WDR83 is not yet associated with disease in OMIM, ClinGen, or G2P (accessed 17 Mar 2026). Sources: Literature |
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| Intellectual disability v9.309 | WDR83 | Ida Ertmanska changed review comment from: Comment on list classification: There is 1 patient reported with GDD/ID, and 1 with ADHD - both individuals had heterozygous de novo variants in WDR83. There is some limited functional evidence in mice supporting WDR83 missense variants as causal in proliferation of neural stem cells. Based on available evidence, this gene can only be rated Amber at this time.; to: Comment on list classification: There is 1 patient reported with GDD/ID, and 1 with ADHD - both individuals had heterozygous de novo missense variants in WDR83. There is some limited functional evidence in mice supporting WDR83 missense variants as causal in proliferation of neural stem cells. Based on available evidence, this gene can only be rated Amber at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.309 | WDR83 | Ida Ertmanska Publications for gene: WDR83 were set to 28332277; 41381792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.308 | WDR83 | Ida Ertmanska changed review comment from: Comment on list classification: There is 1 patient reported with GDD/ID and 1 with ADHD - both individuals had heterozygous de novo variants in WDR83. There is some limited functional evidence in mice supporting WDR83 missense variants as causal in proliferation of neural stem cells. Based on available evidence, this gene can only be rated Amber at this time.; to: Comment on list classification: There is 1 patient reported with GDD/ID, and 1 with ADHD - both individuals had heterozygous de novo variants in WDR83. There is some limited functional evidence in mice supporting WDR83 missense variants as causal in proliferation of neural stem cells. Based on available evidence, this gene can only be rated Amber at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.308 | WDR83 | Ida Ertmanska Classified gene: WDR83 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.308 | WDR83 | Ida Ertmanska Added comment: Comment on list classification: There is 1 patient reported with GDD/ID and 1 with ADHD - both individuals had heterozygous de novo variants in WDR83. There is some limited functional evidence in mice supporting WDR83 missense variants as causal in proliferation of neural stem cells. Based on available evidence, this gene can only be rated Amber at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.308 | WDR83 | Ida Ertmanska Gene: wdr83 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.307 | WDR83 |
Ida Ertmanska gene: WDR83 was added gene: WDR83 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: WDR83 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR83 were set to 28332277; 41381792 Phenotypes for gene: WDR83 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: WDR83 was set to AMBER Added comment: PMID: 41381792 Tabata et al., 2025 7yo Japanese female patient presenting with global developmental delay, intellectual disability, microcephaly, and dysmorphic features. Brain MRI at 7 months showed enlarged bilateral ventricles. WES detected a de novo heterozygous WDR83 variant [NM_001099737; c.653 T > C,p.(L218P)]. Functional: Overexpression of WDR83-L218P in mice via in utero electroporation led to reduced proliferation of neural stem cells. Suggested GOF mechanism of disease. PMID: 28332277 Kim et al., 2017 ADHD proband with de novo heterozygous WDR83 p.Gly127Arg variant (MAF = 0.000002542 in gnomAD v4) PMID: 37509073 Wulf et al., 2023 - Homozygous Wdr83 knockout (KO) mice die around embryonic day 11 due to severe defects in cell proliferation and massive apoptosis. PMID: 19726548 Hammerschmidt, Loeffler & Wolf, 2009 - Heterozygous Wdr83+/- mice display a normal phenotype, with no apparent abnormalities in brain structure or cerebral vascular architecture Sources: Literature |
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| Intellectual disability v8.130 | WDR83OS | Achchuthan Shanmugasundram Phenotypes for gene: WDR83OS were changed from complex neurodevelopmental disorder, MONDO:0100038; intellectual disability, MONDO:0001071 to Neurodevelopmental disorder with variable familial hypercholanemia, OMIM:621016 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.129 | WDR83OS | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WDR83OS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | WDR83OS | Sarah Leigh Tag Q3_24_promote_green was removed from gene: WDR83OS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | WDR83OS | Sarah Leigh reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | WDR83OS |
Sarah Leigh Source NHS GMS was added to WDR83OS. Source Expert Review Green was added to WDR83OS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v8.30 | WDR83OS | Achchuthan Shanmugasundram Classified gene: WDR83OS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.30 | WDR83OS | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are nine unrelated families reported with biallelic WDR83OS variants and a neurodevelopmental disorder comprising intellectual disability/ developmental delay. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.30 | WDR83OS | Achchuthan Shanmugasundram Gene: wdr83os has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.29 | WDR83OS | Achchuthan Shanmugasundram Phenotypes for gene: WDR83OS were changed from Intellectual disability to complex neurodevelopmental disorder, MONDO:0100038; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.29 | WDR83OS | Achchuthan Shanmugasundram Publications for gene: WDR83OS were set to 30250217 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.28 | WDR83OS | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WDR83OS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.28 | WDR83OS | Achchuthan Shanmugasundram reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250217, 39471804; Phenotypes: complex neurodevelopmental disorder, MONDO:0100038, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.16 | WDR83OS | Zornitza Stark reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: None; Publications: 39471804; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.381 | WDR83OS |
Ivone Leong gene: WDR83OS was added gene: WDR83OS was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR83OS were set to 30250217 Phenotypes for gene: WDR83OS were set to Intellectual disability Review for gene: WDR83OS was set to RED Added comment: One consanguineous family with three affected individuals with homozygous split site variant in this gene. All three have ID. Sources: Literature |
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