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| Skeletal dysplasia v0.374 | COL2A1 | Zornitza Stark Marked gene: COL2A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.374 | COL2A1 | Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.374 | COL2A1 | Zornitza Stark Publications for gene: COL2A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.373 | COL2A1 | Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.372 | COL2A1 | Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755234; Phenotypes: spondyloepiphyseal dysplasia congenita MONDO:0008471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | COL2A1 |
Zornitza Stark gene: COL2A1 was added gene: COL2A1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: COL2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL2A1 were set to Osteoarthritis with mild chondrodysplasia 604864; Czech dysplasia 609162; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; SED congenita 183900; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type I 108300; Stickler sydrome, type I, nonsyndromic ocular 609508; Kniest dysplasia 156550; Platyspondylic skeletal dysplasia, Torrance type 151210; Spondyloperipheral dysplasia 271700; Achondrogenesis, type II or hypochondrogenesis 200610; Legg-Calve-Perthes disease 150600; Avascular necrosis of the femoral head 608805 |
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