Laterality disorders and isomerism

Gene: CCDC103

Green List (high evidence)

CCDC103 (coiled-coil domain containing 103)
EnsemblGeneIds (GRCh38): ENSG00000167131
EnsemblGeneIds (GRCh37): ENSG00000167131
OMIM: 614677, Gene2Phenotype
CCDC103 is in 9 panels

2 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

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

Phenotypes
OMIM 614679 Ciliary dyskinesia, primary, 17

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679
OMIM
614677
Clinvar variants
Variants in CCDC103
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CCDC103 were set to

16 May 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CCDC103 was changed from to BIALLELIC, autosomal or pseudoautosomal

16 May 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CCDC103 were changed from to Ciliary dyskinesia, primary, 17, 614679

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CCDC103. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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