Neuromuscular 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)

I don't know

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, 11:35 a.m. | Last Modified: 18 Oct 2019, 11:35 a.m.
Panel Version: 0.20
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test group
Created: 16 May 2019, 9:33 p.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Wieacker-Wolff syndrome, 314580

Variants in this GENE are reported as part of current diagnostic practice

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
  • NHS GMS
  • Expert Review Green
  • London South GLH
Phenotypes
  • Wieacker-Wolff syndrome, 314580
OMIM
300897
Clinvar variants
Variants in ZC4H2
Penetrance
None
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 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ZC4H2.

16 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ZC4H2. Rating Changed from Red List (low evidence) to Green List (high evidence)

16 May 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: ZC4H2 was added gene: ZC4H2 was added to Neuromuscular arthrogryposis. Sources: London South GLH 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