Heterotaxy
Gene: C11orf70

C11orf70 (chromosome 11 open reading frame 70)
EnsemblGeneIds (GRCh38): ENSG00000137691
EnsemblGeneIds (GRCh37): ENSG00000137691
C11orf70 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

aka CFAP300 OMIM: CFAP300 is an evolutionarily conserved protein essential for assembly of dynein arms. PMID: 29727692 - 2 unrelated families, one with a homozygous missense, the other chet for two PTCs. Patients have immotile respiratory cilia. Paramecium knockouts have lost cilia and swimming velocity, PMID: 29727693 - 5 families with biallelic PTCs. Patients had increased respiratory infections and 1 situs inversus
Created: 4 May 2020, 10:41 a.m. | Last Modified: 4 May 2020, 10:41 a.m.

Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 38, MIM# 618063

Publications

Created: 4 May 2020, 10:41 a.m.
Last Modified: 4 May 2020, 10:41 a.m.
Panel version: 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 38, MIM# 618063

Tags

new gene name

Clinvar variants

Variants in C11orf70

Penetrance

None

Publications

Panels with this gene