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| Prepair 1000+ v1.497 | COL27A1 | Zornitza Stark Marked gene: COL27A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.497 | COL27A1 | Zornitza Stark Gene: col27a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.497 | COL27A1 | Zornitza Stark Phenotypes for gene: COL27A1 were changed from Steel Syndrome to Steel Syndrome, MIM#615155 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.496 | COL27A1 | Zornitza Stark Publications for gene: COL27A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.486 | COL27A1 |
Crystle Lee changed review comment from: Steel syndrome is cause by biallelic loss-of-function variants. This condition is characterized by short stature, hip dislocation, radial head dislocation, and carpal coalition; to: Steel syndrome is cause by biallelic loss-of-function variants. This condition is characterized by short stature, hip dislocation, radial head dislocation, and carpal coalition |
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| Prepair 1000+ v1.486 | COL27A1 | Crystle Lee reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32360765, 33963180; Phenotypes: Steel syndrome (MIM#615155); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | COL27A1 | Seb Lunke Added phenotypes Steel Syndrome for gene: COL27A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | COL27A1 |
Zornitza Stark gene: COL27A1 was added gene: COL27A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL27A1 were set to Steel Syndrome |
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