Skeletal ciliopathies
Gene: GRK2EnsemblGeneIds (GRCh38): ENSG00000173020
EnsemblGeneIds (GRCh37): ENSG00000173020
OMIM: 109635, Gene2Phenotype
GRK2 is in 1 panel
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated families and some functional data available in support of the disease association. Hence, it should be rated amber with current evidence.Created: 17 Jan 2024, 10:01 a.m. | Last Modified: 17 Jan 2024, 10:01 a.m.
Panel Version: 3.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jeune syndrome, MONDO:0018770
Zornitza Stark (Australian Genomics)
Two unrelated families reported and some functional data.
Sources: LiteratureCreated: 8 Jul 2021, 8:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jeune asphyxiating thoracic dystrophy (ATD)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Jeune syndrome, MONDO:0018770
- OMIM
- 109635
- Clinvar variants
- Variants in GRK2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: grk2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: GRK2 were changed from Jeune asphyxiating thoracic dystrophy (ATD) to Jeune syndrome, MONDO:0018770
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: GRK2 was added gene: GRK2 was added to Skeletal 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