Arthrogryposis
Gene: ACTA1The 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
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
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
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
Tag Q3_21_MOI was removed from gene: ACTA1.
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
Tag Q3_21_MOI tag was added to gene: ACTA1.
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
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.
ACTA1 was added to Arthrogryposispanel. Source: Expert Review
ACTA1 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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;
Publications for ACTA1 were set to 10508519
Mode of inheritance for ACTA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
ACTA1 was added to Arthrogryposispanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
ACTA1 was added to Arthrogryposispanel. Sources: Expert list
ACTA1 was created by ellenmcdonagh