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  2. Familial non syndromic congenital heart disease
  3. MYOM2
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Familial non syndromic congenital heart disease

Gene: MYOM2

Red List (low evidence)
MYOM2 (myomesin 2)
EnsemblGeneIds (GRCh38): ENSG00000036448
EnsemblGeneIds (GRCh37): ENSG00000036448
OMIM: 603509, Gene2Phenotype
MYOM2 is in 1 panel

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

No known association. Not recognised on G2P or OMIM.
Created: 28 Nov 2016, 2:41 p.m.

Mode of inheritance
Unknown

Created: 28 Nov 2016, 2:41 p.m.

Panel version: 0.7

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tetralogy of Fallot (Grunert (2014) Hum Mol Genet 23,3115)
OMIM
603509
Clinvar variants
Variants in MYOM2
Penetrance
Complete
Publications
  • doi: 10.1093/hmg/ddu021.
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

28 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

28 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYOM2 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen

28 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MYOM2 was created by ellenmcdonagh