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  3. CCDC103
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Fetal anomalies

Gene: CCDC103

Green List (high evidence)
CCDC103 (coiled-coil domain containing 103)
EnsemblGeneIds (GRCh38): ENSG00000167131
EnsemblGeneIds (GRCh37): ENSG00000167131
OMIM: 614677, Gene2Phenotype
CCDC103 is in 8 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for CCDC103 is DNAAF19.
Created: 28 Oct 2024, 1:59 p.m. | Last Modified: 28 Oct 2024, 1:59 p.m.
Panel Version: 4.198
Created: 28 Oct 2024, 1:59 p.m.
Last Modified: 28 Oct 2024, 1:59 p.m.
Panel version: 4.198

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PAGE study: Diagnostic Homozygous variant identified in CCDC103 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).
Created: 18 Apr 2019, 3:51 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for PRIMARY CILIARY DYSKINESIA
Created: 11 Dec 2018, 9:04 a.m.

Publications

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.183

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY CILIARY DYSKINESIA
Tags
new-gene-name
OMIM
614677
Clinvar variants
Variants in CCDC103
Penetrance
None
Panels with this gene

History Filter Activity

28 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: CCDC103.

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CCDC103 was added gene: CCDC103 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC103 were set to PRIMARY CILIARY DYSKINESIA