Paediatric or syndromic cardiomyopathy
Gene: SHMT2Submitted on behalf of NHS GMS "May be appropriate on a congenital malformation/syndromic panel (R27) but not on R135."Created: 3 Mar 2022, 10:56 a.m. | Last Modified: 3 Mar 2022, 10:56 a.m.
Panel Version: 1.63
After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. May be appropriate on a congenital malformation/syndromic panel (R27) but not on R135.Created: 3 Mar 2022, 10:56 a.m. | Last Modified: 3 Mar 2022, 10:56 a.m.
Panel Version: 1.63
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: LiteratureCreated: 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
Tag for-review was removed from gene: SHMT2.
Gene: shmt2 has been classified as Amber List (Moderate Evidence).
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