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| Fetal anomalies v0.567 | COL11A2 | Zornitza Stark Marked gene: COL11A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.567 | COL11A2 | Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.567 | COL11A2 | Zornitza Stark Phenotypes for gene: COL11A2 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 13; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; WEISSENBACHER-ZWEYMUELLER SYNDROME; STICKLER SYNDROME TYPE 3; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 to Fibrochondrogenesis 2, MIM# 614524; Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.566 | COL11A2 | Zornitza Stark reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrochondrogenesis 2, MIM# 614524, Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COL11A2 |
Zornitza Stark gene: COL11A2 was added gene: COL11A2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL11A2 were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 13; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; WEISSENBACHER-ZWEYMUELLER SYNDROME; STICKLER SYNDROME TYPE 3; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 |
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