VPS51

VPS51, GARP complex subunit
OMIM: 615738, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber VPS51 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.78

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 13, MIM# 618606

Amber VPS51 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 13, MIM# 618606

Amber VPS51 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.295

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 13, MIM# 618606

Amber VPS51 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 13, MIM# 618606

Amber VPS51 in Fetal anomalies


Version 1.313

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 13, MIM# 618606