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Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Marked gene: SAMD9L as ready
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Classified gene: SAMD9L as Green List (high evidence)
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Bone Marrow Failure v0.53 SAMD9L Zornitza Stark gene: SAMD9L was added
gene: SAMD9L was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9L were set to 27259050; 30923096; 30322869
Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550
Mode of pathogenicity for gene: SAMD9L was set to Other
Review for gene: SAMD9L was set to GREEN
Added comment: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism.
Sources: Expert list