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  2. Fetal anomalies
  3. MYSM1
Genes in panel
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Fetal anomalies

Gene: MYSM1

Amber List (moderate 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

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Green in cytopenia, paediatric, immuno panels. Severe aplastic anaemia described as phenotype. Cannot find report of hydrops included in the review of evidence in other papers. All births preterm 33 weeks, rhizomelic skeletal findings on omim but only in one patient. Skeletal findings and growth parameters in other patients (there are not many) - not consistent.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bone marrow failure syndrome 4, OMIM:618116

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Bone marrow failure syndrome 4, OMIM:618116
OMIM
612176
Clinvar variants
Variants in MYSM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MYSM1 was added gene: MYSM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYSM1 were set to 33082562 Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, OMIM:618116