Activity
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11 actions
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| Severe microcephaly v8.51 | VPS50 | Ida Ertmanska Added comment: Comment on phenotypes: Phenotype updated 22nd Apr 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.51 | VPS50 | Ida Ertmanska Phenotypes for gene: VPS50 were changed from Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685; neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, MONDO:0859216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.50 | VPS50 | Ida Ertmanska Publications for gene: VPS50 were set to 34037727 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.49 | VPS50 | Ida Ertmanska Classified gene: VPS50 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.49 | VPS50 | Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated individuals reported with biallelic VPS50 variants and a concordant phenotype including cholestasis, ID / DD, CC hypoplasia on MRI, seizures, and failure to thrive. Hence, this gene can be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.49 | VPS50 | Ida Ertmanska Gene: vps50 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.48 | VPS50 |
Ida Ertmanska Tag watchlist was removed from gene: VPS50. Tag Q2_26_promote_green tag was added to gene: VPS50. |
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| Severe microcephaly v8.48 | VPS50 | Ida Ertmanska reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685, neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, MONDO:0859216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.256 | VPS50 |
Ivone Leong changed review comment from: Comment on list classification: New gene added by Konstantinos Varvagiannis (Other). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 34037727. Both patients have severe microcephaly (-7.65 to -10.35 z-score), height at 2 years (-2.65 to -3.84 z-score), seizures, hypoplastic coprus callosum, neonatal cholestasis and feeding difficulties. Based on the available evidence there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.; to: Comment on list classification: New gene added by Konstantinos Varvagiannis (Other). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 34037727. Both patients have severe microcephaly (-7.65 to -10.35 z-score), height at 2 years (-2.65 to -3.84 z-score), seizures, hypoplastic corpus callosum, neonatal cholestasis and feeding difficulties. Based on the available evidence there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. |
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| Severe microcephaly v2.256 | VPS50 | Ivone Leong Entity copied from Intellectual disability v3.1322 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.256 | VPS50 |
Ivone Leong gene: VPS50 was added gene: VPS50 was added to Severe microcephaly. Sources: Expert Review Amber,Literature watchlist tags were added to gene: VPS50. Mode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS50 were set to 34037727 Phenotypes for gene: VPS50 were set to Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum Penetrance for gene: VPS50 were set to Complete |
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