SHMT2

serine hydroxymethyltransferase 2
OMIM: 138450, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SHMT2 in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.189 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly
Green SHMT2 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly
Green SHMT2 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly
Green SHMT2 in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly
Green SHMT2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly
Green SHMT2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly
Green SHMT2 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.76 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly
Green SHMT2 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly
Green SHMT2 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polymicrogyria corpus callosum anomalies Microcephaly Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities - #619121
Green SHMT2 in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866