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| Skeletal Dysplasia_Fetal v0.244 | ADAMTSL2 | Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1-MIM#231050 to Geleophysic dysplasia 1-MIM#231050; Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.243 | ADAMTSL2 | Zornitza Stark Publications for gene: ADAMTSL2 were set to 20301776; 21415077 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.242 | ADAMTSL2 | Zornitza Stark reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36896612; Phenotypes: Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.140 | ADAMTSL2 | Zornitza Stark Marked gene: ADAMTSL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.140 | ADAMTSL2 | Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.140 | ADAMTSL2 | Zornitza Stark Classified gene: ADAMTSL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.140 | ADAMTSL2 | Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.137 | ADAMTSL2 |
Krithika Murali gene: ADAMTSL2 was added gene: ADAMTSL2 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTSL2 were set to 20301776; 21415077 Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1-MIM#231050 Review for gene: ADAMTSL2 was set to GREEN Added comment: Disproportionate growth restriction affecting length has been detected in the antenatal period -- Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; perinatal presentation with skeletal and heart features reported. Multiple families reported. Sources: Literature |
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