Ciliary Dyskinesia
Gene: C11orf70EnsemblGeneIds (GRCh38): ENSG00000137691
EnsemblGeneIds (GRCh37): ENSG00000137691
C11orf70 is in 4 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
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 invertus
Sources: Expert listCreated: 4 May 2020, 5:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 38 618063
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Ciliary dyskinesia, primary, 38 618063
- Tags
- Clinvar variants
- Variants in C11orf70
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag new gene name tag was added to gene: C11orf70.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c11orf70 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c11orf70 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: C11orf70 was added gene: C11orf70 was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: C11orf70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C11orf70 were set to PMID: 29727693; 29727692 Phenotypes for gene: C11orf70 were set to Ciliary dyskinesia, primary, 38 618063 Review for gene: C11orf70 was set to GREEN