Activity
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| Intellectual disability v9.392 | WSB2 | Ida Ertmanska Added comment: Comment on phenotypes: Phenotype updated 22nd Apr 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.392 | WSB2 | Ida Ertmanska Phenotypes for gene: WSB2 were changed from neurodevelopmental disorder, MONDO:0700092 to Luo-Agrawal neurodevelopmental syndrome, OMIM:621552; neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.339 | WSB2 | Arina Puzriakova Tag gene-checked tag was added to gene: WSB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.211 | WSB2 |
Achchuthan Shanmugasundram changed review comment from: PMID:40374945 reported five patients from four unrelated families with developmental delays, brain anomalies, and dysmorphic features with or without intrauterine growth restriction (IUGR) and hypotonia. All five patients had global developmental delay. They were all identified with homozygous predicted loss-of-function (pLoF) or missense variants in WSB2 gene (c.128G>A/ p.Trp43Ter, p.Gln134ArgfsTer14, c.1121G>A/ p.Arg374Gln & c.1187_1188delAA/ p.Lys396ArgfsTer19) inherited from asymptomatic consanguineous parents. There is also functional evidence available from Wsb2-mutant mice, which exhibited several neurological findings that included hyperactivity, altered exploration, and hyper alertness. They also weighed less, had a lower heart rate, and presented an abnormal retinal blood vessel morphology and vasculature pattern along with decreased total thickness of the retina. This gene has not been associated with relevant phenotypes either in OMIM, Gene2Phenotype or ClinGen Sources: Literature; to: PMID:40374945 reported five patients from four unrelated families with developmental delays, brain anomalies, and dysmorphic features with or without intrauterine growth restriction (IUGR) and hypotonia. All five patients had global developmental delay. They were all identified with homozygous predicted loss-of-function (pLoF) or missense variants in WSB2 gene (c.128G>A/ p.Trp43Ter, p.Gln134ArgfsTer14, c.1121G>A/ p.Arg374Gln & c.1187_1188delAA/ p.Lys396ArgfsTer19) inherited from asymptomatic consanguineous parents. There is also functional evidence available from Wsb2-mutant mice, which exhibited several neurological findings that included hyperactivity, altered exploration, and hyper alertness. They also weighed less, had a lower heart rate, and presented an abnormal retinal blood vessel morphology and vasculature pattern along with decreased total thickness of the retina. This gene has not been associated with relevant phenotypes either in OMIM, Gene2Phenotype or ClinGen. Sources: Literature |
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| Intellectual disability v9.211 | WSB2 | Achchuthan Shanmugasundram Classified gene: WSB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.211 | WSB2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although intellectual disability has only been noted in one of four families (family with two patients where ID is moderate in one and severity not given in other), the phenotype is syndromic and GDD is present in all four families. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.211 | WSB2 | Achchuthan Shanmugasundram Gene: wsb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.210 | WSB2 | Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: WSB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.210 | WSB2 |
Achchuthan Shanmugasundram gene: WSB2 was added gene: WSB2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WSB2 were set to 40374945 Phenotypes for gene: WSB2 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: WSB2 was set to GREEN Added comment: PMID:40374945 reported five patients from four unrelated families with developmental delays, brain anomalies, and dysmorphic features with or without intrauterine growth restriction (IUGR) and hypotonia. All five patients had global developmental delay. They were all identified with homozygous predicted loss-of-function (pLoF) or missense variants in WSB2 gene (c.128G>A/ p.Trp43Ter, p.Gln134ArgfsTer14, c.1121G>A/ p.Arg374Gln & c.1187_1188delAA/ p.Lys396ArgfsTer19) inherited from asymptomatic consanguineous parents. There is also functional evidence available from Wsb2-mutant mice, which exhibited several neurological findings that included hyperactivity, altered exploration, and hyper alertness. They also weighed less, had a lower heart rate, and presented an abnormal retinal blood vessel morphology and vasculature pattern along with decreased total thickness of the retina. This gene has not been associated with relevant phenotypes either in OMIM, Gene2Phenotype or ClinGen Sources: Literature |
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