Ectodermal dysplasia

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Adding this gene as Amber as two cases reported. This gene should be looked at, at the next GMS review to assess whether the phenotype is relevant to the panel.
Created: 7 Oct 2020, 3:28 p.m. | Last Modified: 7 Oct 2020, 3:28 p.m.
Panel Version: 1.10
Not associated with a phenotype in OMIM.

PMID: 32336749 - Malki et al 2020 - identified homozygous variants in C3ORF52 in four individuals with Localized autosomal recessive hypotrichosis (LAH) (2 families). 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 variants were associated with decreased C3ORF52 expression and resulted in markedly reduced lipase H-mediated LPA biosynthesis. Abstract only accessed.
Sources: Literature
Created: 7 Oct 2020, 3:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Localized hypotrichosis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Localized hypotrichosis
Tags
for-review
OMIM
611956
Clinvar variants
Variants in C3orf52
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: C3orf52.

7 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

7 Oct 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: C3orf52 was added gene: C3orf52 was added to Ectodermal dysplasia. Sources: Literature Mode of inheritance for gene: C3orf52 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C3orf52 were set to 32336749 Phenotypes for gene: C3orf52 were set to Localized hypotrichosis Review for gene: C3orf52 was set to AMBER