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| Mendeliome v1.4457 | GRK2 | Zornitza Stark Publications for gene: GRK2 were set to 33200460 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4456 | GRK2 | Zornitza Stark Classified gene: GRK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4456 | GRK2 | Zornitza Stark Gene: grk2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4455 | GRK2 | Teresa Zhao changed review comment from: PMID 38647386 (2024): a novel homozygous p.(Arg474Ter) reported in an individual with Jeune ATD. Both parents are healthy carriers. Additional features include Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and mid-gut malrotation. Same patient has been reported again in PMID: 38585547.; to: PMID 38647386 (2024): a novel homozygous p.(Arg474Ter) reported in an individual with Jeune ATD. Both parents are healthy carriers. Additional features include Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and mid-gut malrotation. Same patient has been reported again in PMID: 38585547. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4454 | GRK2 | Teresa Zhao reviewed gene: GRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38647386; Phenotypes: Jeune asphyxiating thoracic dystrophy (ATD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11067 | GRK2 | Zornitza Stark Phenotypes for gene: GRK2 were changed from Jeune asphyxiating thoracic dystrophy (ATD) to Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8259 | GRK2 | Zornitza Stark Marked gene: GRK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8259 | GRK2 | Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8259 | GRK2 | Zornitza Stark Classified gene: GRK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8259 | GRK2 | Zornitza Stark Gene: grk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8258 | GRK2 |
Zornitza Stark gene: GRK2 was added gene: GRK2 was added to Mendeliome. 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 Added comment: Two unrelated families reported and some functional data. Sources: Literature |
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