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  2. Congenital Heart Defect
  3. ROCK2
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Congenital Heart Defect

Gene: ROCK2

Amber List (moderate evidence)
ROCK2 (Rho associated coiled-coil containing protein kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000134318
EnsemblGeneIds (GRCh37): ENSG00000134318
OMIM: 604002, Gene2Phenotype
ROCK2 is in 2 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Reported in 4 unrelated individuals however classified as LIMITED by ClinGen Congenital Heart Disease GCEP on 03/09/2024 - https://search.clinicalgenome.org/CCID:008432
Sources: ClinGen
Created: 7 Nov 2024, 1:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital heart disease MONDO:0005453

Publications

Created: 7 Nov 2024, 1:27 a.m.

Panel version: 0.420

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • congenital heart disease MONDO:0005453
OMIM
604002
Clinvar variants
Variants in ROCK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rock2 has been classified as Amber List (Moderate Evidence).

4 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rock2 has been classified as Amber List (Moderate Evidence).

7 Nov 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: ROCK2 was added gene: ROCK2 was added to Congenital Heart Defect. Sources: ClinGen Mode of inheritance for gene: ROCK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ROCK2 were set to 28554332, 30622330, 31941532 Phenotypes for gene: ROCK2 were set to congenital heart disease MONDO:0005453 Review for gene: ROCK2 was set to AMBER