Cytopenia - NOT Fanconi anaemia
Gene: MYSM1The 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
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
Variants in this GENE are reported as part of current diagnostic practice
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 submittedCreated: 14 Feb 2019, 5:40 p.m.
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
Tag for-review was removed from gene: MYSM1.
Source Expert Review Green was added to MYSM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: MYSM1 were changed from 618116 Bone marrow failure syndrome 4 to Bone marrow failure syndrome 4, 618116
Publications for gene: MYSM1 were set to
Gene: mysm1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: MYSM1.
Mode of inheritance for gene: MYSM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: mysm1 has been classified as Amber List (Moderate Evidence).
Added phenotypes 618116 Bone marrow failure syndrome 4 for gene: MYSM1
Source NHS GMS was added to MYSM1.
gene: MYSM1 was added gene: MYSM1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: MYSM1 was set to