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Fetal anomalies

Gene: C16orf62

Green List (high evidence)
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, 4:04 a.m. | Last Modified: 18 Apr 2023, 4:04 a.m.
Panel Version: 1.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 18 Apr 2023, 4:04 a.m.
Last Modified: 18 Apr 2023, 4:04 a.m.
Panel version: 1.99

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 impaired autophagy and VPS35L knockout mouse resulted in early embryonic lethality (PMID 25434475;31712251).

Microphthalmia and multiple other anomalies.
Sources: Expert Review
Created: 3 Mar 2022, 5:09 a.m. | Last Modified: 3 Mar 2022, 5:09 a.m.
Panel Version: 0.4715

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 3 Mar 2022, 5:09 a.m.
Last Modified: 3 Mar 2022, 5:09 a.m.
Panel version: 0.4715

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
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).

3 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Mar 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C16orf62 was added gene: C16orf62 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C16orf62 were set to 25434475; 31712251 Phenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Review for gene: C16orf62 was set to AMBER