EEF1A2

eukaryotic translation elongation factor 1 alpha 2
OMIM: 602959, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green EEF1A2 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, autosomal dominant 38, MIM# 616393 MONDO:0014617 Developmental and epileptic encephalopathy 33, MIM# 616409 MONDO:0014625
Amber EEF1A2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy MIM#616409
Green EEF1A2 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 38, MIM# 616393 MONDO:0014617 Developmental and epileptic encephalopathy 33, MIM# 616409 MONDO:0014625
Green EEF1A2 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, autosomal dominant 38, MIM# 616393 MONDO:0014617 Developmental and epileptic encephalopathy 33, MIM# 616409 MONDO:0014625
Green EEF1A2 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, autosomal dominant 38, MIM# 616393 MONDO:0014617 Developmental and epileptic encephalopathy 33, MIM# 616409 MONDO:0014625
Red EEF1A2 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 38, MIM# 616393 MONDO:0014617 Developmental and epileptic encephalopathy 33, MIM# 616409 MONDO:0014625