Arthrogryposis
Gene: ZC4H2EnsemblGeneIds (GRCh38): ENSG00000126970
EnsemblGeneIds (GRCh37): ENSG00000126970
OMIM: 300897, Gene2Phenotype
ZC4H2 is in 6 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on mode of inheritance: MOI changed to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' as some female carriers also show signs of disease.Created: 18 Oct 2019, 11:34 a.m. | Last Modified: 18 Oct 2019, 11:34 a.m.
Panel Version: 2.46
Alice Gardham (Genomics England)
Comment when marking as ready: On Guy's panelCreated: 22 Dec 2016, 1:18 p.m.
Mutations identified in at least five different families with severe x-linked arthrogryposis. Recognised on G2PCreated: 22 Dec 2016, 1:18 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Wieacker-Wolff syndrome 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
- Literature
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Wieacker-Wolff syndrome, OMIM:314580
- Wieacker-Wolff syndrome, female-restricted, OMIM:301041
- OMIM
- 300897
- Clinvar variants
- Variants in ZC4H2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ZC4H2 were changed from Wieacker-Wolff syndrome 314580 to Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041
Set mode of inheritance
Louise Daugherty (Genomics England Curator)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)
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Alice Gardham (Genomics England)ZC4H2 was created by agardham
Added New Source
Alice Gardham (Genomics England)ZC4H2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Literature