Congenital myopathy

Gene: ZC4H2

Red List (low 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)

Green List (high evidence)

Comment on list classification: Changed from Green to Red. Updated rating from Anna Sarkozy as a result of GLH Test Group prior to sign off
Created: 3 Dec 2019, 2:50 p.m. | Last Modified: 3 Dec 2019, 2:50 p.m.
Panel Version: 1.198
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: 1.183
After review with Genomics England clinical team this gene was deemed valid to include on the congenital myopathy panel, as affected individuals clearly have muscle weakness. The majority of boys with it have a level of severity that it is onset in utero, leading to contractures. Arthrogryposis and congenital myopathy are a clinical continuum and as long as the neuromuscular group do not disagree, so should on both panels.
Created: 18 Oct 2019, 11:33 a.m. | Last Modified: 18 Oct 2019, 11:33 a.m.
Panel Version: 1.182
Comment on list classification: Changed rating from Red to Green based on recommendation from Guy's Hospital. Sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Created: 17 Oct 2019, 9:41 a.m. | Last Modified: 17 Oct 2019, 9:41 a.m.
Panel Version: 1.173
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.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

Publications

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
  • Expert Review Red
  • NHS GMS
  • London South GLH
Phenotypes
  • Wieacker-Wolff syndrome, 314580
OMIM
300897
Clinvar variants
Variants in ZC4H2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: zc4h2 has been classified as Red List (Low Evidence).

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)

17 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: zc4h2 has been classified as Green List (High Evidence).

17 Oct 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ZC4H2 were set to 23623388, 26056227

3 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ZC4H2 were changed from CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1, 108120; Arthrogryposis, distal, type 2B, 601680 to Wieacker-Wolff syndrome, 314580

3 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ZC4H2 were set to 12592607; 11738357; 17434307

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ZC4H2 were changed from CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120; Arthrogryposis, distal, type 2B 601680 to CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1, 108120; Arthrogryposis, distal, type 2B, 601680

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ZC4H2 were changed from to CAP myopathy 2, 609285; Nemaline myopathy 4, autosomal dominant 609285; Arthrogryposis multiplex congenita, distal, type1 108120; Arthrogryposis, distal, type 2B 601680

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ZC4H2 were set to

30 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ZC4H2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ZC4H2.

30 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ZC4H2 was added gene: ZC4H2 was added to Congenital myopathy. Sources: London South GLH Mode of inheritance for gene: ZC4H2 was set to