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| Metaphyseal dysplasias v0.2 | SRP54 | Tiong Tan Classified gene: SRP54 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metaphyseal dysplasias v0.2 | SRP54 | Tiong Tan Gene: srp54 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metaphyseal dysplasias v0.0 | SRP54 | Tiong Tan Marked gene: SRP54 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metaphyseal dysplasias v0.0 | SRP54 | Tiong Tan Gene: srp54 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metaphyseal dysplasias v0.0 | SRP54 | Tiong Tan reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: None; Publications: 29914977; Phenotypes: SBDS-like, severe congenital neutropenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metaphyseal dysplasias v0.0 | SRP54 |
Tiong Tan gene: SRP54 was added gene: SRP54 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SRP54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SRP54 were set to SCN8; 618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT |
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