Fetal anomalies
Gene: C16orf62

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.

Panel Version: 5.78

The 'new-gene-name' tag has been added as the HGNC approved gene symbol is VPS35L.
Created: 20 Feb 2025, 9:52 p.m. | Last Modified: 20 Feb 2025, 9:52 p.m.

Panel Version: 5.16

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.

Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Vicki Harrison (Wessex Clinical Genetics Service)

Green List (high evidence)

The HGNC approved name for this gene is: VPS35 endosomal protein sorting factor like (VPS35L). 1 pair of sibs comp het missense. Craniofacial, ophthalmia, cardiac (AVSD), skeletal (CDP), CNS (vermian hypoplasia). Newer paper - 3 unrelated patients, comp het/homozygous. Similar phenotype craniocerebellocardiac. Protein expression relatively higher in more milder patients compared with the more severe.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.

Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ritscher-Schinzel syndrome 3, MIM#619135

Publications

36113987

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Ritscher-Schinzel syndrome 3, OMIM:619135

Tags

new-gene-name gene-checked

Clinvar variants

Variants in C16orf62

Penetrance

None

Publications

36113987

Panels with this gene