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  3. GRK2
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Ciliopathies

Gene: GRK2

Amber List (moderate evidence)
GRK2 (G protein-coupled receptor kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000173020
EnsemblGeneIds (GRCh37): ENSG00000173020
OMIM: 109635, Gene2Phenotype
GRK2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported and some functional data.
Sources: Literature
Created: 7 Jul 2021, 9:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Jeune asphyxiating thoracic dystrophy (ATD)

Publications

Created: 7 Jul 2021, 9:56 a.m.

Panel version: 1.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770
OMIM
109635
Clinvar variants
Variants in GRK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GRK2 were changed from Jeune asphyxiating thoracic dystrophy (ATD) to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770

7 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grk2 has been classified as Amber List (Moderate Evidence).

7 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grk2 has been classified as Amber List (Moderate Evidence).

7 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRK2 was added gene: GRK2 was added to Ciliopathies. Sources: Literature Mode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRK2 were set to 33200460 Phenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD) Review for gene: GRK2 was set to AMBER