Arthrogryposis
Gene: ZC4H2

ZC4H2 (zinc finger C4H2-type containing)
EnsemblGeneIds (GRCh38): ENSG00000126970
EnsemblGeneIds (GRCh37): ENSG00000126970
OMIM: 300897, Gene2Phenotype
ZC4H2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 40 families reported.
Created: 25 Sep 2021, 3:13 a.m. | Last Modified: 25 Sep 2021, 3:13 a.m.

Panel Version: 0.296

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Wieacker-Wolff syndrome, MIM# 314580

Publications

Created: 25 Sep 2021, 3:13 a.m.
Last Modified: 25 Sep 2021, 3:13 a.m.
Panel version: 0.296

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple families reported

PMID: 23623388; Hirata 2013: Reported 4 variants in 5 families with arthrogryposis Multiplex Congenita.
Created: 3 Jun 2020, 4:06 a.m. | Last Modified: 3 Jun 2020, 4:06 a.m.

Panel Version: 0.49

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Wieacker-Wolff syndrome (MIM#314580)

Publications

Created: 3 Jun 2020, 4:06 a.m.
Last Modified: 3 Jun 2020, 4:06 a.m.
Panel version: 0.49

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Wieacker-Wolff syndrome (MIM#314580)

OMIM

300897

Clinvar variants

Variants in ZC4H2

Penetrance

None

Publications

Panels with this gene