Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities: genes and variants
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities is linked to 1 analyzed protein (SHMT2). 1 DNA variants are known to cause it; 7 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
SHMT2: Serine hydroxymethyltransferase, mitochondrial
It transfers one-carbon units from serine into the mitochondrial folate cycle while generating glycine, supporting nucleotide synthesis, redox balance, and mitochondrial translation. Altered activity is important in proliferating and metabolically stressed cells, including many cancers.
1 disease-causing and 7 uncertain variants in SHMT2 are linked to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.
Known disease-causing variants in Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SHMT2 P499A | 499 | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities?
In CATVariant, Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities is linked to 1 analyzed protein: SHMT2 (Serine hydroxymethyltransferase, mitochondrial).
How many genetic variants are linked to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities?
13 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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