Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Bone Marrow Failure v1.30 SRP19 Zornitza Stark Classified gene: SRP19 as Amber List (moderate evidence)
Bone Marrow Failure v1.30 SRP19 Zornitza Stark Gene: srp19 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.29 SRP19 Zornitza Stark edited their review of gene: SRP19: Added comment: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model.; Changed rating: AMBER
Bone Marrow Failure v1.29 SRP19 Zornitza Stark Marked gene: SRP19 as ready
Bone Marrow Failure v1.29 SRP19 Zornitza Stark Gene: srp19 has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.29 SRP19 Zornitza Stark Phenotypes for gene: SRP19 were changed from Neutropenia, MONDO:0001475, SRP19-related to Neutropenia, MONDO:0001475, SRP19-related
Bone Marrow Failure v1.29 SRP19 Zornitza Stark Phenotypes for gene: SRP19 were changed from neutropenia; myeloid maturation arrest; growth deficiency to Neutropenia, MONDO:0001475, SRP19-related
Bone Marrow Failure v1.28 SRP19 Zornitza Stark Classified gene: SRP19 as Red List (low evidence)
Bone Marrow Failure v1.28 SRP19 Zornitza Stark Gene: srp19 has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.27 SRP19 Zornitza Stark reviewed gene: SRP19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, MONDO:0001475, SRP19-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.27 SRP19 Pasquale Barbaro gene: SRP19 was added
gene: SRP19 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: SRP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRP19 were set to PMID: 36223592
Phenotypes for gene: SRP19 were set to neutropenia; myeloid maturation arrest; growth deficiency
Penetrance for gene: SRP19 were set to unknown
Review for gene: SRP19 was set to RED
Added comment: One kindred reported
Sources: Literature