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  3. MYSM1
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IBMDx study

Gene: MYSM1

Green List (high evidence)
MYSM1 (Myb like, SWIRM and MPN domains 1)
EnsemblGeneIds (GRCh38): ENSG00000162601
EnsemblGeneIds (GRCh37): ENSG00000162601
OMIM: 612176, Gene2Phenotype
MYSM1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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
Created: 10 Jan 2020, 2:58 a.m. | Last Modified: 7 Sep 2020, 3:48 a.m.
Panel Version: 0.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bone marrow failure syndrome 4, MIM#618116

Publications

Created: 10 Jan 2020, 2:58 a.m.
Last Modified: 7 Sep 2020, 3:48 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.81

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Bone marrow failure syndrome 4, MIM#618116
OMIM
612176
Clinvar variants
Variants in MYSM1
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYSM1 was added gene: MYSM1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: MYSM1 was set to Unknown Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116