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  3. CFAP52
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Heterotaxy

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families and functional data.
Sources: Literature
Created: 7 Dec 2020, 8:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Dec 2020, 8:23 a.m.

Panel version: 1.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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

9 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFAP52 were changed from Heterotaxy to Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607

7 Dec 2020, 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).

7 Dec 2020, 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).

7 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFAP52 was added gene: CFAP52 was added to Heterotaxy. 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