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| BabyScreen+ newborn screening v0.1679 | COL11A1 | Zornitza Stark Tag treatable tag was added to gene: COL11A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1151 | COL11A1 |
Zornitza Stark Tag for review was removed from gene: COL11A1. Tag ophthalmological tag was added to gene: COL11A1. |
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| BabyScreen+ newborn screening v0.1151 | COL11A1 |
Zornitza Stark changed review comment from: Mono-allelic variants in this gene cause Stickler syndrome, as well as isolated post-lingual deafness, and the rare Marshall syndrome. There is some genotype-phenotype correlation. Treatment: ocular surveillance and surgery to prevent retinal detachment For review; to: Mono-allelic variants in this gene cause Stickler syndrome, as well as isolated post-lingual deafness, and the rare Marshall syndrome. There is some genotype-phenotype correlation. Treatment: ocular surveillance and surgery to prevent retinal detachment. Usually after age 2-3 years. Discussed with ophthalmology: would start glaucoma surveillance in first year of life. |
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| BabyScreen+ newborn screening v0.682 | COL11A1 | Zornitza Stark Marked gene: COL11A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.682 | COL11A1 | Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.682 | COL11A1 | Zornitza Stark Phenotypes for gene: COL11A1 were changed from Stickler syndrome to Stickler syndrome, type II, MIM# 604841 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.681 | COL11A1 | Zornitza Stark Tag for review tag was added to gene: COL11A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.681 | COL11A1 | Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type II, MIM# 604841; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | COL11A1 |
Zornitza Stark gene: COL11A1 was added gene: COL11A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL11A1 were set to Stickler syndrome |
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