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Cerebellar hypoplasia

Gene: C16orf62

Amber List (moderate evidence)
C16orf62 (chromosome 16 open reading frame 62)
EnsemblGeneIds (GRCh38): ENSG00000103544
EnsemblGeneIds (GRCh37): ENSG00000103544
C16orf62 is in 9 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

Comment on phenotypes: OMIM phenotype added 1st May 2026.
Created: 1 May 2026, 2:45 p.m. | Last Modified: 1 May 2026, 2:45 p.m.
Panel Version: 1.87
Created: 1 May 2026, 2:45 p.m.
Last Modified: 1 May 2026, 2:45 p.m.
Panel version: 1.87

Sarah Leigh (Genomics England Curator)

I don't know

Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. Two variants have been reported as compound heterozygotes in two sibs with features of 3C/Ritscher-Schinzel syndrome. Functional studies show that loss of VPS35L function results in impared autophagy and VPS35L knockout mouse resulted in early embrionic lethality (PMID 31712251).
Created: 22 Jun 2020, 1:56 p.m. | Last Modified: 22 Jun 2020, 1:56 p.m.
Panel Version: 1.41
The HGNC approved name for this gene is: VPS35 endosomal protein sorting factor like (VPS35L)
Sources: Literature
Created: 22 Jun 2020, 1:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3C/Ritscher-Schinzel-like syndrome

Publications

Created: 22 Jun 2020, 1:55 p.m.

Panel version: 1.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ritscher-Schinzel syndrome 3, OMIM:619135
Tags
new-gene-name gene-checked
Clinvar variants
Variants in C16orf62
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 May 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: C16orf62 were changed from 3C/Ritscher-Schinzel-like syndrome to Ritscher-Schinzel syndrome 3, OMIM:619135

1 May 2026, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked tag was added to gene: C16orf62.

22 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: c16orf62 has been classified as Amber List (Moderate Evidence).

22 Jun 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: C16orf62 was added gene: C16orf62 was added to Cerebellar hypoplasia. Sources: Literature new-gene-name tags were added to gene: C16orf62. Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C16orf62 were set to 31712251 Phenotypes for gene: C16orf62 were set to 3C/Ritscher-Schinzel-like syndrome Review for gene: C16orf62 was set to AMBER