VPS50

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green VPS50 in Cholestasis Level 2: Gastroenterological disorders Version 0.240 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum
Green VPS50 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum
Green VPS50 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum
Green VPS50 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum
Green VPS50 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum
Amber VPS50 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685