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Primary immunodeficiency or monogenic inflammatory bowel disease v8.68 SRP72 Arina Puzriakova Publications for gene: SRP72 were set to 22541560; 29146883; 32098966
Primary immunodeficiency or monogenic inflammatory bowel disease v8.67 SRP72 Arina Puzriakova Classified gene: SRP72 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.67 SRP72 Arina Puzriakova Added comment: Comment on list classification: Several lines of conflicting evidence, including lack of relevant phenotype in mouse model, unaffected carriers and variants in other genes that could explain patient phenotypes - this means strongly corroborating evidence is required before this gene can be added to a diagnostic panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.67 SRP72 Arina Puzriakova Gene: srp72 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.66 SRP72 Arina Puzriakova edited their review of gene: SRP72: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v8.66 SRP72 Arina Puzriakova commented on gene: SRP72
Primary immunodeficiency or monogenic inflammatory bowel disease v8.66 SRP72 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: SRP72.
Tag Q2_25_expert_review was removed from gene: SRP72.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.11 SRP72 Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: SRP72.
Tag Q2_25_expert_review tag was added to gene: SRP72.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.11 SRP72 Sarah Leigh Added comment: Comment on phenotypes: Familial MDS/AML;inherited bone marrow failure syndromes (IBMFS);congenital neutropenia;Shwachman-Diamond syndrome
Primary immunodeficiency or monogenic inflammatory bowel disease v8.11 SRP72 Sarah Leigh Phenotypes for gene: SRP72 were changed from Familial MDS/AML; inherited bone marrow failure syndromes (IBMFS); congenital neutropenia; Shwachman-Diamond syndrome to Bone marrow failure syndrome 1, OMIM:614675; autosomal dominant aplasia and myelodysplasia, MONDO:0013851
Primary immunodeficiency or monogenic inflammatory bowel disease v8.10 SRP72 Sarah Leigh Publications for gene: SRP72 were set to 32098966
Primary immunodeficiency or monogenic inflammatory bowel disease v8.9 SRP72 Sarah Leigh reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: None; Publications: 22541560, 29146883; Phenotypes: Bone marrow failure syndrome 1, OMIM:614675, autosomal dominant aplasia and myelodysplasia, MONDO:0013851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v8.9 SRP72 Sarah Leigh Classified gene: SRP72 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.9 SRP72 Sarah Leigh Gene: srp72 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 SRP72 Lauma Freimane gene: SRP72 was added
gene: SRP72 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature,Research
Mode of inheritance for gene: SRP72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRP72 were set to 32098966
Phenotypes for gene: SRP72 were set to Familial MDS/AML; inherited bone marrow failure syndromes (IBMFS); congenital neutropenia; Shwachman-Diamond syndrome