1. Panels
  2. Paediatric pseudo-obstruction syndrome
  3. ACTG2
STRs in panel
Prev Next
Regions in panel
Prev Next

Paediatric pseudo-obstruction syndrome

Gene: ACTG2

Green List (high evidence)
ACTG2 (actin, gamma 2, smooth muscle, enteric)
EnsemblGeneIds (GRCh38): ENSG00000163017
EnsemblGeneIds (GRCh37): ENSG00000163017
OMIM: 102545, Gene2Phenotype
ACTG2 is in 9 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Created: 1 Feb 2023, 7:44 a.m.
Last Modified: 1 Feb 2023, 7:44 a.m.
Panel version: 0.216

Eleanor Williams (Genomics England Curator)

Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Myopathic PIPO/MMIHS. Protein function: enteric smooth muscle actingamma 2.
Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Altered ACTG2 protein in the muscularis propria leads to impaired contractility

Publications

Created: 20 Dec 2022, 3:32 p.m.
Last Modified: 20 Dec 2022, 3:32 p.m.
Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431
  • Visceral myopathy 1, OMIM:155310
OMIM
102545
Clinvar variants
Variants in ACTG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ACTG2 were set to 24676022; 24337657; 33729000

20 Dec 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ACTG2 were set to 24676022; 24337657; 33729000; 31848803

20 Dec 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ACTG2 were set to

20 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: actg2 has been classified as Green List (High Evidence).

20 Dec 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ACTG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Dec 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ACTG2 were changed from Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431; Visceral myopathy 1, OMIM:155310

20 Dec 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ACTG2 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431

20 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: ACTG2 was added gene: ACTG2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: ACTG2 was set to