EIF2B2:Ensemblv90

Panel	Reviews	Mode of inheritance	Details
Filter panels 24 panels
Green EIF2B2 in Cataract Level 2: Ophthalmological disorders Version 0.396	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes leukodystrophy congenital cataracts Leukoencephalopathy with vanishing white matter, MIM# 603896
Green EIF2B2 in Mendeliome Version 1.3802	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 Ovarioleukodystrophy, MIM# 603896
Green EIF2B2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.309 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	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 Ovarioleukodystrophy, MIM# 603896
Green EIF2B2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.601	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red EIF2B2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896
Green EIF2B2 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.62 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	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 EIF2B2 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.162 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896
Green EIF2B2 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.334 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896
Green EIF2B2 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.153 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter MONDO:0011380
Green EIF2B2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3)
Green EIF2B2 in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.391	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Phenotypes Ovarioleukodystrophy 603896
Green EIF2B2 in Fetal anomalies Version 1.482	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Genetic Health Queensland Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 congenital cataract
Green EIF2B2 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312
Green EIF2B2 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312
Green EIF2B2 in Cataract Level 2: Ophthalmological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes leukodystrophy congenital cataracts Leukoencephalopathy with vanishing white matter, MIM# 603896
Green EIF2B2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert list Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, MIM#603896 Ovarioleukodystrophy, MIM# 603896
Green EIF2B2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green EIF2B2 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert list Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Green EIF2B2 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, MIM# 603896
Green EIF2B2 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter MONDO:0011380
Green EIF2B2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3)
Green EIF2B2 in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Ovarioleukodystrophy 603896
Green EIF2B2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312
Green EIF2B2 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312

EIF2B2:Ensemblv90

24 panels

Green EIF2B2 in Cataract

Sources

Phenotypes

Green EIF2B2 in Mendeliome

Sources

Phenotypes

Green EIF2B2 in Genetic Epilepsy

Sources

Phenotypes

Green EIF2B2 in Regression

Sources

Red EIF2B2 in Intellectual disability syndromic and non-syndromic

Sources

Phenotypes

Green EIF2B2 in Ataxia - adult onset

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Phenotypes

Green EIF2B2 in Ataxia

Sources

Phenotypes

Green EIF2B2 in Leukodystrophy - paediatric

Sources

Phenotypes

Green EIF2B2 in Leukodystrophy - adult onset

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Phenotypes

Green EIF2B2 in Mackenzie's Mission_Reproductive Carrier Screening

Sources

Phenotypes

Green EIF2B2 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Sources

Phenotypes

Green EIF2B2 in Fetal anomalies

Sources

Phenotypes

Green EIF2B2 in Prepair 1000+

Sources

Phenotypes

Green EIF2B2 in Prepair 500+

Sources

Phenotypes

Green EIF2B2 in Cataract

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Phenotypes

Green EIF2B2 in Genetic Epilepsy

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Phenotypes

Green EIF2B2 in Regression

Sources

Green EIF2B2 in Ataxia - adult onset

Sources

Phenotypes

Green EIF2B2 in Leukodystrophy - paediatric

Sources

Phenotypes

Green EIF2B2 in Leukodystrophy - adult onset

Sources

Phenotypes

Green EIF2B2 in Mackenzie's Mission_Reproductive Carrier Screening

Sources

Phenotypes

Green EIF2B2 in Primary Ovarian Insufficiency_Premature Ovarian Failure

Sources

Phenotypes

Green EIF2B2 in Prepair 1000+

Sources

Phenotypes

Green EIF2B2 in Prepair 500+

Sources

Phenotypes