Aminoacidopathy
Gene: SHMT2EnsemblGeneIds (GRCh38): ENSG00000182199
EnsemblGeneIds (GRCh37): ENSG00000182199
OMIM: 138450, Gene2Phenotype
SHMT2 is in 10 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Reported in 5 unrelated probands with abnormal biochemical function.
Classified as Moderate by ClinGen Aminoacidopathy GCEP on 11/11/2022
https://search.clinicalgenome.org/CCID:006136
Sources: ClinGenCreated: 9 Jul 2024, 5:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866
- OMIM
- 138450
- Clinvar variants
- Variants in SHMT2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: shmt2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: shmt2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SHMT2 was added gene: SHMT2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHMT2 were set to 33015733; 35398349; 29323231 Phenotypes for gene: SHMT2 were set to neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866 Review for gene: SHMT2 was set to GREEN