Combined Immunodeficiency
Gene: MYSM1

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, 2:55 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

Created: 10 Jan 2020, 2:55 a.m.
Last Modified: 7 Sep 2020, 3:49 a.m.
Panel version: 0.162

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Bone marrow failure syndrome 4, MIM#618116

Tags

treatable

OMIM

612176

Clinvar variants

Variants in MYSM1

Penetrance

None

Publications

Panels with this gene