MEF2C

myocyte enhancer factor 2C
OMIM: 600662, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green MEF2C in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 MONDO:0013266 Tags SV/CNV 5'UTR
Green MEF2C in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MEF2C in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443
Red MEF2C in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Congenital heart disease
Green MEF2C in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chromosome 5q14.3 deletion syndrome, 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 MONDO:0013266 Tags SV/CNV 5'UTR
Green MEF2C in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 MONDO:0013266 Tags SV/CNV 5'UTR
Green MEF2C in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green MEF2C in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 MONDO:0013266 Tags SV/CNV 5'UTR
Green MEF2C in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443
Red MEF2C in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Red Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443
Green MEF2C in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 MONDO:0013266 Tags SV/CNV