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Hair disorders

Gene: C3orf52

Amber List (moderate evidence)
C3orf52 (chromosome 3 open reading frame 52)
EnsemblGeneIds (GRCh38): ENSG00000114529
EnsemblGeneIds (GRCh37): ENSG00000114529
OMIM: 611956, Gene2Phenotype
C3orf52 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6)
Sources: Literature
Created: 3 Aug 2020, 10:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotrichosis-15, MIM#620177

Publications

Created: 3 Aug 2020, 10:57 p.m.

Panel version: 0.65

Chirag Patel (Genetic Health Queensland)

I don't know

2 families with 4 individuals with localised hypotrichosis and homozygous variants in C3ORF52. C3ORF52 was found to be coexpressed with lipase H in the inner root sheath of the hair follicle and the two proteins were found to directly interact. The LAH-causing variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H–mediated 2-acyl-lysophosphatidic acid (LPA) biosynthesis. Same pathway as two other genes for localised hypotrichosis (LIPH and LPAR6)
Sources: Literature
Created: 3 Aug 2020, 10:17 p.m. | Last Modified: 3 Aug 2020, 10:18 p.m.
Panel Version: 0.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Localized hypotrichosis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Aug 2020, 10:17 p.m.
Last Modified: 3 Aug 2020, 10:18 p.m.
Panel version: 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypotrichosis-15, MIM#620177
OMIM
611956
Clinvar variants
Variants in C3orf52
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Dec 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: C3orf52 were changed from Localized hypotrichosis to Hypotrichosis-15, MIM#620177

3 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c3orf52 has been classified as Amber List (Moderate Evidence).

3 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: c3orf52 has been classified as Amber List (Moderate Evidence).

3 Aug 2020, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: C3orf52 was added gene: C3orf52 was added to Hair disorders. Sources: Literature Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C3orf52 were set to PMID: 32336749 Phenotypes for gene: C3orf52 were set to Localized hypotrichosis Review for gene: C3orf52 was set to AMBER gene: C3orf52 was marked as current diagnostic