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Fetal anomalies

Gene: CFAP43

Red List (low evidence)

CFAP43 (cilia and flagella associated protein 43)
EnsemblGeneIds (GRCh38): ENSG00000197748
EnsemblGeneIds (GRCh37): ENSG00000197748
OMIM: 617558, Gene2Phenotype
CFAP43 is in 3 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

Associated with infertility. Only adult-onset hydrocephalus reported.
Sources: Literature
Created: 5 Dec 2021, 11:33 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hydrocephalus, normal pressure, 1 236690
  • Spermatogenic failure 19 617592
OMIM
617558
Clinvar variants
Variants in CFAP43
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: cfap43 has been classified as Red List (Low Evidence).

6 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: cfap43 has been classified as Red List (Low Evidence).

5 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: CFAP43 was added gene: CFAP43 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CFAP43 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CFAP43 were set to 31884020; 28552195; 31004071; 29449551 Phenotypes for gene: CFAP43 were set to Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592 Review for gene: CFAP43 was set to RED