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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
  3. ACTG2
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

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 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Renal manifestations: megacystis, hydronephrosis.
Sources: Expert list
Created: 5 Jan 2020, 8:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Visceral myopathy, MIM# 155310

Created: 5 Jan 2020, 8:30 p.m.

Panel version: 0.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Visceral myopathy, MIM# 155310
OMIM
102545
Clinvar variants
Variants in ACTG2
Penetrance
None
Panels with this gene

History Filter Activity

5 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACTG2 was added gene: ACTG2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTG2 were set to Visceral myopathy, MIM# 155310 Review for gene: ACTG2 was set to GREEN