1. Panels
  2. Research panel - Severe Paediatric Disorders
  3. ACTA1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Research panel - 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 10 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
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

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ACTA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ACTA1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: ACTA1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: ACTA1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: ACTA1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Myopathy, actin, congenital, with cores, 161800; Nemaline myopathy 3, autosomal dominant or recessive, 161800 for gene: ACTA1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ACTA1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ACTA1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ACTA1 was added gene: ACTA1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ACTA1 was set to