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

Prepair 1000+

Gene: ZC4H2

Green List (high evidence)

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The ZC4H2 gene is associated with both XLD & XLR conditions (OMIM).

For carrier screening testing, the only relevant condition is XLR Wieacker-Wolff syndrome MIM#314580.

Wieacker-Wolff syndrome is an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement (PMID: 31206972).

Genotype-phenotype correlation: null variants are often associated with the XLD female restricted phenotype (and are possibly hemizygous lethal) while variants resulting in partial LoF are associated with the XLR condition (PMID: 31206972). Carrier females of variants resulting in partial LoF may present mild symptoms due to skewed X-inactivation (PMID: 31206972). Therefore, the female partner may be affected.
Created: 5 Feb 2025, 1:23 a.m. | Last Modified: 5 Feb 2025, 1:23 a.m.
Panel Version: 1.1456

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

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
  • Mackenzie's Mission
Phenotypes
  • Wieacker-Wolff syndrome MIM#314580
OMIM
300897
Clinvar variants
Variants in ZC4H2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zc4h2 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZC4H2 were changed from Wieacker-Wolff syndrome, 314580 (3) to Wieacker-Wolff syndrome MIM#314580

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZC4H2 were set to

7 Feb 2025, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZC4H2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZC4H2 was added gene: ZC4H2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, 314580 (3)