Neuromuscular arthrogryposis

Gene: ACTA1

Green List (high evidence)

ACTA1 (actin, alpha 1, skeletal muscle)
EnsemblGeneIds (GRCh38): ENSG00000143632
EnsemblGeneIds (GRCh37): ENSG00000143632
OMIM: 102610, Gene2Phenotype
ACTA1 is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test group
Created: 16 May 2019, 9:33 p.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, actin, congenital, with cores, 161800; Myopathy, actin, congenital, with excess of thin myofilaments 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Nemaline myopathy 3, 161800

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ACTA1.

16 May 2019, 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)

16 May 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: ACTA1 was added gene: ACTA1 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: ACTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ACTA1 were set to Myopathy, actin, congenital, with excess of thin myofilaments 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Nemaline myopathy 3, 161800; Myopathy, actin, congenital, with cores, 161800