Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: CCDC40

Green List (high evidence)

CCDC40 (coiled-coil domain containing 40)
EnsemblGeneIds (GRCh38): ENSG00000141519
EnsemblGeneIds (GRCh37): ENSG00000141519
OMIM: 613799, Gene2Phenotype
CCDC40 is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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 CILIARY DYSKINESIA, PRIMARY, 15
Created: 11 Dec 2018, 9:04 a.m.

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CCDC40 was added gene: CCDC40 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15