Arthrogryposis
Gene: ACTA1EnsemblGeneIds (GRCh38): ENSG00000143632
EnsemblGeneIds (GRCh37): ENSG00000143632
OMIM: 102610, Gene2Phenotype
ACTA1 is in 10 panels
4 reviews
Eleanor Williams (Genomics England Curator)
The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 3:39 p.m. | Last Modified: 30 Jan 2023, 3:39 p.m.
Panel Version: 4.5
Ivone Leong (Genomics England Curator)
In OMIM, "Nemaline myopathy 3, autosomal dominant or recessive" has been given both AD and AR MOIs and that severe form causes arthrogryposis. Therefore, the MOI should be changed from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal".Created: 5 Jul 2021, 9:55 a.m. | Last Modified: 5 Jul 2021, 9:55 a.m.
Panel Version: 3.107
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Alice Gardham (Genomics England)
Comment on list classification: Arthrogryposis seen in severe congenital typeCreated: 21 Dec 2016, 12:01 p.m.
Probable DD in G2P. Green on congenital myopathy panelCreated: 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)
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
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review
- Expert
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Myopathy, actin, congenital, with cores, OMIM:161800
- Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800
- Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310
- Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
- CMD with rigid spine
- OMIM
- 102610
- Clinvar variants
- Variants in ACTA1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_MOI was removed from gene: ACTA1.
Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to ACTA1. Mode of inheritance for gene ACTA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_MOI tag was added to gene: ACTA1.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ACTA1 were changed from 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 to Myopathy, actin, congenital, with cores, OMIM:161800; Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800; Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310; Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800; CMD with rigid spine
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.
Added New Source
Ellen McDonagh (Genomics England Curator)ACTA1 was added to Arthrogryposispanel. Source: Expert Review
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
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
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;
Set publications
Alice Gardham (Genomics England)Publications for ACTA1 were set to 10508519
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for ACTA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Added New Source
Ellen McDonagh (Genomics England Curator)ACTA1 was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)ACTA1 was created by ellenmcdonagh