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| BabyScreen+ newborn screening v0.1679 | COL2A1 |
Zornitza Stark Tag for review was removed from gene: COL2A1. Tag treatable tag was added to gene: COL2A1. Tag ophthalmological tag was added to gene: COL2A1. |
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| BabyScreen+ newborn screening v0.1151 | COL2A1 |
Zornitza Stark changed review comment from: Variants in this gene are associated with a range of skeletal phenotypes. Onset and severity can be variable. Treatment: surveillance and prophylactic retinal laser treatment to prevent retinal detachment. For review.; to: Variants in this gene are associated with a range of skeletal phenotypes. Onset and severity can be variable. Treatment: surveillance and prophylactic retinal laser treatment to prevent retinal detachment. This is usually after the age of 2-3 years. Discussed with ophthalmology, would start glaucoma surveillance in the first year of life. |
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| BabyScreen+ newborn screening v0.844 | COL2A1 | Zornitza Stark Marked gene: COL2A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.844 | COL2A1 | Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.844 | COL2A1 | Zornitza Stark Phenotypes for gene: COL2A1 were changed from Stickler syndrome to Stickler syndrome, type I, MIM# 108300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.843 | COL2A1 | Zornitza Stark Tag for review tag was added to gene: COL2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.843 | COL2A1 | Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type I, MIM# 108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | COL2A1 |
Zornitza Stark gene: COL2A1 was added gene: COL2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL2A1 were set to Stickler syndrome |
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