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  3. VPS51
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Microcephaly

Gene: VPS51

Amber List (moderate evidence)
VPS51 (VPS51, GARP complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000149823
EnsemblGeneIds (GRCh37): ENSG00000149823
OMIM: 615738, Gene2Phenotype
VPS51 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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. Microcephaly -3/-4SD.
Sources: Expert list
Created: 27 Apr 2020, 11:07 a.m. | Last Modified: 27 Apr 2020, 11:08 a.m.
Panel Version: 0.121

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 13, MIM# 618606

Publications

Created: 27 Apr 2020, 11:07 a.m.
Last Modified: 27 Apr 2020, 11:08 a.m.
Panel version: 0.121

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
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 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps51 has been classified as Amber List (Moderate Evidence).

2 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vps51 has been classified as Amber List (Moderate Evidence).

27 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VPS51 was added gene: VPS51 was added to Microcephaly. Sources: Expert list 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