Skeletal ciliopathies
Gene: GRK2
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
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
Gene: grk2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: GRK2 were changed from Jeune asphyxiating thoracic dystrophy (ATD) to Jeune syndrome, MONDO:0018770
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