VPS50

VPS50, EARP/GARPII complex subunit
OMIM: 616465, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber VPS50 in Cholestasis Level 2: Gastrohepatology Version 3.24 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, MONDO:0859216 Tags Q2_26_promote_green
Amber VPS50 in Malformations of cortical development Level 2: Neurology Version 7.58 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, MONDO:0859216 Tags Q2_26_promote_green
Amber VPS50 in Severe microcephaly Level 2: Neurology Version 8.51 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, MONDO:0859216 Tags Q2_26_promote_green
Green VPS50 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.192 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis, OMIM:619685
Amber VPS50 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.192 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, MONDO:0859216 Tags Q2_26_promote_green
Amber VPS50 in Intellectual disability Level 2: Developmental disorders Version 9.397 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, MONDO:0859216 Tags Q2_26_promote_green
No list VPS50 in Monogenic short stature Level 2: Endocrinology Version 1.36 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, MONDO:0859216 Tags curated_removed