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  3. CAPZA2
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Intellectual disability

Gene: CAPZA2

Amber List (moderate evidence)
CAPZA2 (capping actin protein of muscle Z-line alpha subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000198898
EnsemblGeneIds (GRCh37): ENSG00000198898
OMIM: 601571, Gene2Phenotype
CAPZA2 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: 2 cases reported. Some functional evidence but not enough to promote to green.
Created: 2 Jul 2020, 2:11 p.m. | Last Modified: 2 Jul 2020, 2:11 p.m.
Panel Version: 3.128
Not associated with a disease phenotype in OMIM.

PMID: 32338762 - Huang et al 2020 - report 2 unrelated families (Chinese and European) in which a de novo heterozygous variant has been identified in CAPZA2 in paediatric probands that present with global motor development delay, speech delay, intellectual disability, hypotonia. One proband had seizures at 7 months but these were controlled with medication and did not repeat. The other proband at age one had an atypical febrile seizure that was controlled without medication. Functional studies in Drosophila suggest that these variants are mild loss of function mutations but that they can act as dominant negative variants in actin polymerization in bristles.
Sources: Literature
Created: 2 Jul 2020, 2:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 2 Jul 2020, 2:03 p.m.

Panel version: 3.127

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • intellectual disability
OMIM
601571
Clinvar variants
Variants in CAPZA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jul 2020, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CAPZA2 were changed from to intellectual disability

2 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: capza2 has been classified as Amber List (Moderate Evidence).

2 Jul 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: CAPZA2 was added gene: CAPZA2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CAPZA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAPZA2 were set to 32338762 Review for gene: CAPZA2 was set to AMBER