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Intellectual disability

Gene: VPS51

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VPS51 (VPS51, GARP complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000149823
EnsemblGeneIds (GRCh37): ENSG00000149823
OMIM: 615738, Gene2Phenotype
VPS51 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Literature
Created: 2 May 2020, 2:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 13, MIM# 618606

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Pontocerebellar hypoplasia, type 13, MIM# 618606
OMIM
615738
Clinvar variants
Variants in VPS51
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: VPS51 was added gene: VPS51 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS51 were set to 30624672; 31207318 Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606 Review for gene: VPS51 was set to AMBER