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Combined Immunodeficiency v1.26 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Combined Immunodeficiency v0.362 MYSM1 Zornitza Stark Marked gene: MYSM1 as ready
Combined Immunodeficiency v0.362 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.163 MYSM1 Zornitza Stark Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525
Combined Immunodeficiency v0.162 MYSM1 Zornitza Stark changed review comment from: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list; to: Early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list
Combined Immunodeficiency v0.162 MYSM1 Zornitza Stark edited their review of gene: MYSM1: Changed publications: 24288411, 28115216, 26220525, 32640305
Combined Immunodeficiency v0.28 MYSM1 Zornitza Stark Classified gene: MYSM1 as Green List (high evidence)
Combined Immunodeficiency v0.28 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v0.27 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116
Review for gene: MYSM1 was set to GREEN
Added comment: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list