Laterality disorders and isomerism

Gene: CFAP52

Amber List (moderate evidence)

CFAP52 (cilia and flagella associated protein 52)
EnsemblGeneIds (GRCh38): ENSG00000166596
EnsemblGeneIds (GRCh37): ENSG00000166596
OMIM: 609804, Gene2Phenotype
CFAP52 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Created: 12 Apr 2021, 3:12 p.m. | Last Modified: 12 Apr 2021, 3:12 p.m.
Panel Version: 1.25

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five unrelated families and functional data.
Sources: Literature
Created: 9 Dec 2020, 8:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • visceral heterotaxy, MONDO:0018677
Tags
Q2_21_rating
OMIM
609804
Clinvar variants
Variants in CFAP52
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Apr 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: CFAP52.

12 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cfap52 has been classified as Amber List (Moderate Evidence).

12 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CFAP52 were changed from Heterotaxy to visceral heterotaxy, MONDO:0018677

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CFAP52 was added gene: CFAP52 was added to Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP52 were set to 25469542; 33139725 Phenotypes for gene: CFAP52 were set to Heterotaxy Review for gene: CFAP52 was set to GREEN