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Newborns main panel

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

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 28115216 - 2 patients. PMID: 24288411 - 1 family PMID: 26220525 - 1 case PMID: 33858043 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to MYSM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MYSM1. Added phenotypes Bone marrow failure syndrome 4 for gene: MYSM1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MYSM1. Added phenotypes Bone marrow failure syndrome 4 for gene: MYSM1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MYSM1. Added phenotypes Bone marrow failure syndrome 4 for gene: MYSM1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MYSM1. Added phenotypes Bone marrow failure syndrome 4 for gene: MYSM1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to MYSM1. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bone marrow failure syndrome 4 for gene: MYSM1

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: MYSM1 was added gene: MYSM1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal