VPS53

VPS53, GARP complex subunit
OMIM: 615850, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber VPS53 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia type 2E Pontocerebellar hypoplasia 2E (#615851)
Red VPS53 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Pontocerebellar hypoplasia 2E (#615851)
Amber VPS53 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.86	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber UKGTN Other Literature Phenotypes Pontocerebellar Hypoplasia type 2E Pontocerebellar Hypoplasia
Red VPS53 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Pontocerebellar hypoplasia 2E (#615851)
Green VPS53 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype PAGE Additional Gene List Phenotypes PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851 Progressive cerebella-cerebral atrophy type 2
Green VPS53 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Progressive cerebella-cerebral atrophy type 2
Green VPS53 in Intellectual disability Level 2: Developmental disorders Version 9.279 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 Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 2E, 615851 Progressive cerebello-cerebral atrophy intellectual disability developmental delay Tags founder-effect
Green VPS53 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Hereditary ataxia v1.148 Phenotypes Pontocerebellar hypoplasia 2E, 615851
Red VPS53 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH