IUGR and IGF abnormalities

Gene: CCDC8

Green List (high evidence)

CCDC8 (coiled-coil domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000169515
EnsemblGeneIds (GRCh37): ENSG00000169515
OMIM: 614145, Gene2Phenotype
CCDC8 is in 6 panels

3 reviews

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

Comment on phenotypes: Updated phenotype field to add in current OMIM disorder and ID (MIM:614205).
17 Aug 2017, 9:32 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-M syndrome 3, 614205
OMIM
614145
Clinvar variants
Variants in CCDC8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Aug 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for CCDC8 were set to 3-M syndrome 3, 614205

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Apr 2016, Gel status: 4

Set Phenotypes

emma baple (Genomics England Curator)

Phenotypes for CCDC8 were set to 3M

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Oct 2015, Gel status: 0

Added New Source

Peter Clayton (University of Manchester)

CCDC8 was added to IUGR and IGF abnormalitiespanel. Sources: Literature

22 Oct 2015, Gel status: 0

Created

Peter Clayton (University of Manchester)

CCDC8 was created by peter.clayton