1. Panels
  2. Arthrogryposis
  3. CCDC78
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: CCDC78

Red List (low evidence)
CCDC78 (coiled-coil domain containing 78)
EnsemblGeneIds (GRCh38): ENSG00000162004
EnsemblGeneIds (GRCh37): ENSG00000162004
OMIM: 614666, Gene2Phenotype
CCDC78 is in 5 panels

0 reviews

Details

Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Myopathy, centronuclear, 4, 614807
OMIM
614666
Clinvar variants
Variants in CCDC78
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC78 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen CCDC78 was added to Arthrogryposispanel. Source: Expert

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CCDC78 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CCDC78 was created by ellenmcdonagh