Heterotaxy
Gene: CCDC65
Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.
Situs inversus not reported.Created: 3 May 2020, 10:46 p.m. | Last Modified: 30 Dec 2021, 9:52 a.m.
Panel Version: 1.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 27, MIM# 615504
Publications
Gene: ccdc65 has been classified as Red List (Low Evidence).
Gene: ccdc65 has been classified as Green List (High Evidence).
Tag founder tag was added to gene: CCDC65.
Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, MIM# 615504
Publications for gene: CCDC65 were set to
Mode of inheritance for gene: CCDC65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: CCDC65 was added gene: CCDC65 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CCDC65 was set to Unknown