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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 11 panels

2 reviews

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Arthrogryposis seen in severe congenital type
Created: 21 Dec 2016, 12:01 p.m.
Probable DD in G2P. Green on congenital myopathy panel
Created: 21 Dec 2016, noon

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 3, autosomal dominant or recessive 161800; Myopathy, actin, congenital, with excess of thin myofilaments 161800 ; Myopathy, actin, congenital, with cores 161800;

Publications

Emma Clement (Great Ormond Street Hospital)

I don't know

usually causes myopathy but case reports of CMD presentation (O'grady EJHG 2015)
Created: 19 Dec 2016, 12:02 p.m.
usually causes myopathy but case reports of CMD presentation (O'grady EJHG 2015)
Created: 19 Dec 2016, noon

Phenotypes
CMD with rigid spine

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Nemaline myopathy 3, autosomal dominant or recessive 161800
  • Myopathy, actin, congenital, with excess of thin myofilaments 161800
  • Myopathy, actin, congenital, with cores 161800
  • nemaline myopathy
  • Nemaline myopathy 3, autosomal dominant or recessive, 161800Myopathy, actin, congenital, with excess of thin myofilaments, 161800Myopathy, actin, congenital, with cores, 161800Myopathy, congenital, with fiber-type disproportion 1, 255310
  • Nemaline Myopathy
  • CMD with rigid spine
OMIM
102610
Clinvar variants
Variants in ACTA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA1 was added to Arthrogryposispanel. Source: Expert Review

21 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA1 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for ACTA1 were set to Nemaline myopathy 3, autosomal dominant or recessive 161800; Myopathy, actin, congenital, with excess of thin myofilaments 161800 ; Myopathy, actin, congenital, with cores 161800;

21 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for ACTA1 were set to 10508519

21 Dec 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

ACTA1 was added to Arthrogryposispanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACTA1 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA1 was added to Arthrogryposispanel. Sources: Expert list