Genes in panel
STRs in panel
Prev Next

Cardiomyopathies - including childhood onset

Gene: SHMT2

Amber List (moderate evidence)

SHMT2 (serine hydroxymethyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000182199
EnsemblGeneIds (GRCh37): ENSG00000182199
OMIM: 138450, Gene2Phenotype
SHMT2 is in 3 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag).
Created: 21 Dec 2020, 11:54 a.m. | Last Modified: 21 Dec 2020, 11:54 a.m.
Panel Version: 1.17
SHMT2 is listed in Gene2Phenotype with a 'probable' disease confidence rating for 'SHMT2-related neurodevelopmental syndrome', and is also associated with 'Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, MIM# 619121' in OMIM.
Created: 21 Dec 2020, 11:49 a.m. | Last Modified: 21 Dec 2020, 11:49 a.m.
Panel Version: 1.16
PMID: 33015733 (2020) - 5 individuals from 4 families with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants. Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5). Age of diagnosis of hypertrophic cardiomyopathy ranged from 3 years to 16 years of age.

Other features include dysmorphism, congenital microcephaly, DD/ID and motor dysfunction, in the form of spastic paraparesis, ataxia, and/or peripheral neuropathy. Some functional data indicating variants result in impaired SHMT2 enzymatic function.
Sources: Literature
Created: 21 Dec 2020, 11:49 a.m. | Last Modified: 21 Dec 2020, 11:53 a.m.
Panel Version: 1.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121
Tags
for-review
OMIM
138450
Clinvar variants
Variants in SHMT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: shmt2 has been classified as Amber List (Moderate Evidence).

21 Dec 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: SHMT2 was added gene: SHMT2 was added to Cardiomyopathies - including childhood onset. Sources: Literature for-review tags were added to gene: SHMT2. Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHMT2 were set to 33015733 Phenotypes for gene: SHMT2 were set to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 Review for gene: SHMT2 was set to GREEN