Combined Immunodeficiency
Gene: MYSM1
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 listCreated: 10 Jan 2020, 2:55 a.m. | Last Modified: 7 Sep 2020, 3:49 a.m.
Panel Version: 0.162
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bone marrow failure syndrome 4, MIM#618116
Publications
Tag treatable tag was added to gene: MYSM1.
Gene: mysm1 has been classified as Green List (High Evidence).
Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525
Gene: mysm1 has been classified as Green List (High Evidence).
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