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Intellectual disability syndromic and non-syndromic

Gene: ACTA1

Red List (low evidence)

ACTA1 (actin, alpha 1, skeletal muscle)
EnsemblGeneIds (GRCh38): ENSG00000143632
EnsemblGeneIds (GRCh37): ENSG00000143632
OMIM: 102610, Gene2Phenotype
ACTA1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variants in this gene cause myopathies, and resultant motor delay. Intellect is typically normal. I can only find one report of 3 patients with variants in this gene and ID; however, it is difficult to know whether they may have had a second cause for the ID, in particular as one had a number of other syndromic features.
Created: 23 Nov 2019, 2:01 a.m. | Last Modified: 23 Nov 2019, 2:01 a.m.
Panel Version: 0.0

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Nemaline myopathy 3, MIM#161800; Myopathy, actin, congenital, with cores, MIM#161800

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800
  • Nemaline myopathy 3, MIM#161800
  • Myopathy, actin, congenital, with cores, MIM#161800
OMIM
102610
Clinvar variants
Variants in ACTA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acta1 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACTA1 were changed from to Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Nemaline myopathy 3, MIM#161800; Myopathy, actin, congenital, with cores, MIM#161800

5 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACTA1 were set to

5 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acta1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACTA1 was added gene: ACTA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ACTA1 was set to Unknown