EIF2B1

eukaryotic translation initiation factor 2B subunit alpha
OMIM: 606686, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green EIF2B1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes leukoencephalopathy with vanishing white matter MONDO:0011380 ataxia spasticity optic atrophy Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related
Green EIF2B1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related
Green EIF2B1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red EIF2B1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896
Green EIF2B1 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.16 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Green EIF2B1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896
Green EIF2B1 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.308 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896
Green EIF2B1 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.140 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, 603896
Green EIF2B1 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related
Green EIF2B1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3)
Red EIF2B1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Leukoencephalopathy with vanishing white matter
Green EIF2B1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3)
Red EIF2B1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Leukoencephalopathy with vanishing white matter
Green EIF2B1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related
Green EIF2B1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3)