Intellectual disability syndromic and non-syndromic
Gene: C16orf62

C16orf62 (chromosome 16 open reading frame 62)
EnsemblGeneIds (GRCh38): ENSG00000103544
EnsemblGeneIds (GRCh37): ENSG00000103544
C16orf62 is in 5 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

3 additional unrelated patients with RTSC: postnatal growth restriction, global developmental delay, intellectual disability, short stature, cerebellar/cortical dysplasia, glaucoma, brachydactyly, relative macrocephaly, large anterior fontanelle, hypertelorism and arched eyebrows. They also noted hypercholesterolaemia, hypogammaglobulinaemia and intestinal lymphangiectasia as novel complications of VPS35L-associated RTSC. All 3 had biallelic VPS35L variants (various types). Cells established from patients with the milder phenotypes showed relatively higher VPS35L protein expression. Cellular analysis found VPS35L ablation decreased the cell surface level of lipoprotein receptor-related protein 1 and low-density lipoprotein receptor, resulting in reduced low-density lipoprotein cellular uptake.
Created: 18 Apr 2023, 4:05 a.m. | Last Modified: 18 Apr 2023, 4:05 a.m.

Panel Version: 0.5204

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135

Publications

PMID: 36113987

Created: 18 Apr 2023, 4:05 a.m.
Last Modified: 18 Apr 2023, 4:05 a.m.
Panel version: 0.5204

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

HGNC approved name: VPS35L. 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 25434475;31712251).
Sources: Expert list
Created: 7 Jun 2020, 8:15 a.m. | Last Modified: 9 Jun 2020, 10:15 a.m.

Panel Version: 0.2686

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135

Publications

Created: 7 Jun 2020, 8:15 a.m.
Last Modified: 9 Jun 2020, 10:15 a.m.
Panel version: 0.3337

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135

Tags

new gene name

Clinvar variants

Variants in C16orf62

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: c16orf62 has been classified as Green List (High Evidence).

24 Dec 2020, Gel status: 2