VPS50

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber VPS50 in Cholestasis Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags watchlist
Amber VPS50 in Malformations of cortical development Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 4.26 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags watchlist
Amber VPS50 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags watchlist
Amber VPS50 in Growth failure in early childhood Version 3.88 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 Tags watchlist
Amber VPS50 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags watchlist
Amber VPS50 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags watchlist