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| Bone Marrow Failure v1.32 | SRPRA | Zornitza Stark Marked gene: SRPRA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.32 | SRPRA | Zornitza Stark Gene: srpra has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.32 | SRPRA | Zornitza Stark Phenotypes for gene: SRPRA were changed from neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency to Schwachman-Diamond syndrome MONDO:0009833, SRPA-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.31 | SRPRA | Zornitza Stark Classified gene: SRPRA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.31 | SRPRA | Zornitza Stark Gene: srpra has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.30 | SRPRA | Zornitza Stark reviewed gene: SRPRA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwachman-Diamond syndrome MONDO:0009833, SRPA-relatted; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.27 | SRPRA |
Pasquale Barbaro gene: SRPRA was added gene: SRPRA was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: SRPRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRPRA were set to PMID: 36223592 Phenotypes for gene: SRPRA were set to neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency Penetrance for gene: SRPRA were set to unknown Review for gene: SRPRA was set to RED Added comment: One patient reported with functional data Sources: Literature |
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