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Arthrogryposis

Gene: ZC4H2

Green List (high evidence)

ZC4H2 (zinc finger C4H2-type containing)
EnsemblGeneIds (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)

Green List (high evidence)

Comment when marking as ready: On Guy's panel
Created: 22 Dec 2016, 1:18 p.m.
Mutations identified in at least five different families with severe x-linked arthrogryposis. Recognised on G2P
Created: 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 314580
OMIM
300897
Clinvar variants
Variants in ZC4H2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Oct 2019, Gel status: 3

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)

16 Jan 2017, Gel status: 4

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.

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

ZC4H2 was created by agardham

22 Dec 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

ZC4H2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Literature