Laterality disorders and isomerismGene: CCDC103
On CGGL Royal Brompton panel. Pathogenic bi-allelic variants foudn in multiple PCD patients with and without situs inversus
Good literature evidence.
Created: 25 Nov 2019, 11:47 p.m. | Last Modified: 25 Nov 2019, 11:47 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM 614679 Ciliary dyskinesia, primary, 17
Variants in this GENE are reported as part of current diagnostic practice
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: CCDC103; 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.
Publications for gene: CCDC103 were set to
Mode of inheritance for gene: CCDC103 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were changed from to Ciliary dyskinesia, primary, 17, 614679
Source Expert Review Green was added to CCDC103. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CCDC103 was added gene: CCDC103 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CCDC103 was set to