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Severe Paediatric Disorders

Gene: ACTA1

Green List (high evidence)

ACTA1 (actin, alpha 1, skeletal muscle)
EnsemblGeneIds (GRCh38): ENSG00000143632
EnsemblGeneIds (GRCh37): ENSG00000143632
OMIM: 102610, Gene2Phenotype
ACTA1 is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ACTA1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Myopathy, actin, congenital, with cores, 161800 (3) | Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3) | Myopathy, congenital, with fiber-type disproportion 1, 255310 (3) | Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, actin, congenital, with excess of thin myofilaments, 161800
  • Nemaline myopathy 3, autosomal dominant or recessive, 161800
  • Myopathy, congenital, with fiber-type disproportion 1, 255310
  • Myopathy, actin, congenital, with cores, 161800
OMIM
102610
Clinvar variants
Variants in ACTA1
Penetrance
None
Publications
Panels with this gene