Neuromuscular arthrogryposis
Gene: ZC4H2
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 groupCreated: 16 May 2019, 9:33 p.m.
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
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)
Source NHS GMS was added to ZC4H2.
Source Expert Review Green was added to ZC4H2. Rating Changed from Red List (low evidence) to Green List (high evidence)
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