Cytopenia - NOT Fanconi anaemia

Gene: MYSM1

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 4 Mar 2022, 9:49 a.m. | Last Modified: 4 Mar 2022, 9:49 a.m.

Panel Version: 1.57

Comment on list classification: There are enough cases to support a gene-disease association, as well as several corroborative animal models. Therefore, there is sufficient evidence for MYSM1 to be upgraded from Amber to Green at the next major review.

Created: 29 Sep 2020, 1:31 p.m. | Last Modified: 29 Sep 2020, 1:31 p.m.

Panel Version: 1.18

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.

Created: 14 Sep 2020, 12:50 a.m. | Last Modified: 14 Sep 2020, 12:50 a.m.

Panel Version: 1.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bone marrow failure syndrome 4, MIM#618116

Publications

• 24288411
• 28115216
• 26220525
• 32640305

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MYSM1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 618116 Bone marrow failure syndrome 4; PMID(s): none submitted

Created: 14 Feb 2019, 5:40 p.m.

I don't know

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.

Created: 14 Feb 2019, 5:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
618116 Bone marrow failure syndrome 4