VPS53

VPS53, GARP complex subunit
OMIM: 615850, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green VPS53 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.78	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 2E, MIM# 615851 Tags founder
Red VPS53 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pontocerebellar hypoplasia, type 2E, MIM#615851
Green VPS53 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 2E, OMIM #615851 Tags founder
Green VPS53 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.573	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green VPS53 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia, type 2E, OMIM #615851 Tags founder
Green VPS53 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 2E, 615851 (3)
Red VPS53 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Progressive cerebello-cerebral atrophy
Green VPS53 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia, type 2E, OMIM #615851 Tags founder
Green VPS53 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 2E, MIM#615851 Tags founder
Red VPS53 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Progressive cerebello-cerebral atrophy
Green VPS53 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pontocerebellar hypoplasia, type 2E, 615851 (3)