Laterality disorders and isomerismGene: CCDC65
This gene is associated with a phenotype in OMIM and Gene2Phenotype. As none of the affected patients, to date, show signs of with laterality defects this gene will remain an Amber gene on this panel.
Created: 13 Apr 2021, 2:22 p.m. | Last Modified: 13 Apr 2021, 2:22 p.m.
Panel Version: 1.30
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. In addition, please note three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.
Created: 1 Jun 2020, 9:55 a.m. | Last Modified: 1 Jun 2020, 9:55 a.m.
Panel Version: 1.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ciliary dyskinesia, primary, 27, MIM# 615504
Comment on list classification: Demoted from Green to Amber after review from GMS Respiratory Specialist Test Group webex call 18th Jan 2019 who noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Created: 16 May 2019, 11:08 a.m.
From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Created: 21 Jan 2019, 4:30 p.m. | Last Modified: 21 Aug 2019, 2 p.m.
Panel Version: 0.41
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CCDC65; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.
Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, OMIM:615504
Publications for gene: CCDC65 were set to
Mode of inheritance for gene: CCDC65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ccdc65 has been classified as Amber List (Moderate Evidence).
Source Expert Review Green was added to CCDC65. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CCDC65 was added gene: CCDC65 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CCDC65 was set to