Hand and foot malformations
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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One individual reported with popliteal pterygium syndrome with hmz splice site variant.

Another family reported with fetal encasement (cocoon) syndrome and bi-allelic LOF.

Two individuals reported with de novo variants in the gene and AEC-like syndrome.

None of the associations meet threshold for diagnostic reporting.
Created: 28 May 2021, 12:23 a.m. | Last Modified: 28 May 2021, 12:23 a.m.

Panel Version: 0.7683

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome

Publications

Created: 28 May 2021, 12:23 a.m.
Last Modified: 28 May 2021, 12:23 a.m.
Panel version: Imported from Mendeliome panel version 0.7683

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
Expert list
Victorian Clinical Genetics Services

Phenotypes

?Popliteal pterygium syndrome, Bartsocas-Papas type 2 MIM#619339
Cocoon syndrome MIM#613630

OMIM

600664

Clinvar variants

Variants in CHUK

Penetrance

None

Publications

Panels with this gene