EIF2B4

eukaryotic translation initiation factor 2B subunit delta
OMIM: 606687, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green EIF2B4 in Mendeliome Version 1.2789	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896 leukoencephalopathy with vanishing white matter MONDO:0011380 ataxia spasticity optic atrophy primary ovarian failure
Green EIF2B4 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.169 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes leukoencephalopathy with vanishing white matter MONDO:0011380
Green EIF2B4 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.582	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red EIF2B4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.202	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896
Green EIF2B4 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.49 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 Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Green EIF2B4 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.43 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896
Green EIF2B4 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.321 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 EIF2B4 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.150 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, MIM#603896, MONDO:0011380
Green EIF2B4 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 Leukoencephaly with vanishing white matter, 603896 (3)
Green EIF2B4 in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.348	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Phenotypes Ovarioleukodystrophy 603896
Green EIF2B4 in Prepair 1000+ Level 2: Screening Version 2.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephaly with vanishing white matter, 603896 (3)
Green EIF2B4 in Prepair 500+ Level 2: Screening Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure MIM#620314
Green EIF2B4 in Infertility and Recurrent Pregnancy Loss Version 1.7	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ovarioleukodystrophy, MIM# 620314