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Fetal anomalies v0.3996 | WDR19 | Zornitza Stark Marked gene: WDR19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3996 | WDR19 | Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3996 | WDR19 | Zornitza Stark Phenotypes for gene: WDR19 were changed from CRANIOECTODERMAL DYSPLASIA 4; ASPHYXIATING THORACIC DYSTROPHY 5 to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3995 | WDR19 | Zornitza Stark Publications for gene: WDR19 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3994 | WDR19 | Zornitza Stark changed review comment from: Variants in this gene are associated with a range of ciliopathies. Two families reported with a predominantly skeletal phenotype.; to: Variants in this gene are associated with a range of ciliopathies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3994 | WDR19 | Zornitza Stark edited their review of gene: WDR19: Changed rating: GREEN; Changed publications: 33946315, 33875766, 33606107, 22019273, 23559409, 23683095, 32055034; Changed phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307, Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376, Cranioectodermal dysplasia 4, MIM# 614378 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | WDR19 |
Zornitza Stark gene: WDR19 was added gene: WDR19 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to CRANIOECTODERMAL DYSPLASIA 4; ASPHYXIATING THORACIC DYSTROPHY 5 |