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  3. CCDC103
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Rare multisystem ciliopathy disorders

Gene: CCDC103

Red List (low 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: 1.174
Created: 28 Oct 2024, 1:59 p.m.
Last Modified: 28 Oct 2024, 1:59 p.m.
Panel version: 1.174

Alice Gardham (Genomics England)

Comment when marking as ready: primary ciliary dyskinesia not included on this gene panel
Created: 23 Jan 2017, 2:17 p.m.
Created: 23 Jan 2017, 2:17 p.m.

Panel version: 0.428

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679
Tags
new-gene-name
OMIM
614677
Clinvar variants
Variants in CCDC103
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Oct 2024, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

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

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

23 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

CCDC103 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen

25 Nov 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CCDC103 were set to Ciliary dyskinesia, primary, 17, 614679

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC103 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CCDC103 was created by ellenmcdonagh