Fetal anomalies
Gene: CHUK

CHUK (conserved helix-loop-helix ubiquitous kinase)
EnsemblGeneIds (GRCh38): ENSG00000213341
EnsemblGeneIds (GRCh37): ENSG00000213341
OMIM: 600664, Gene2Phenotype
CHUK is in 4 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 COCOON SYNDROME
Created: 11 Dec 2018, 9:04 a.m.

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

Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

Cocoon syndrome, OMIM:613630
Popliteal pterygium syndrome, Bartsocas-Papas type 2, OMIM:619339

OMIM

600664

Clinvar variants

Variants in CHUK

Penetrance

None

Panels with this gene

History Filter Activity

17 May 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CHUK were changed from COCOON SYNDROME to Cocoon syndrome, OMIM:613630; Popliteal pterygium syndrome, Bartsocas-Papas type 2, OMIM:619339

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

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

Fetal anomalies Gene: CHUK