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Fetal anomalies

Gene: CFAP52

Green List (high evidence)

CFAP52 (cilia and flagella associated protein 52)
EnsemblGeneIds (GRCh38): ENSG00000166596
EnsemblGeneIds (GRCh37): ENSG00000166596
OMIM: 609804, Gene2Phenotype
CFAP52 is in 3 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Five unrelated families and functional data.
Sources: Expert list
Created: 24 Feb 2022, 3:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607
OMIM
609804
Clinvar variants
Variants in CFAP52
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cfap52 has been classified as Green List (High Evidence).

24 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: cfap52 has been classified as Green List (High Evidence).

24 Feb 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: CFAP52 was added gene: CFAP52 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP52 were set to PMID: 25469542; 33139725 Phenotypes for gene: CFAP52 were set to Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607 Review for gene: CFAP52 was set to GREEN