Arthrogryposis
Gene: ZC4H2Comment 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
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
Phenotypes for gene: ZC4H2 were changed from Wieacker-Wolff syndrome 314580 to Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041
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)
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ZC4H2 was created by agardham
ZC4H2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Literature