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Intellectual disability syndromic and non-syndromic

Gene: EIF2B2

Red List (low evidence)

EIF2B2 (eukaryotic translation initiation factor 2B subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000119718
EnsemblGeneIds (GRCh37): ENSG00000119718
OMIM: 606454, Gene2Phenotype
EIF2B2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Progressive neurodegenerative condition rather than ID.
Created: 1 Dec 2019, 9:46 a.m. | Last Modified: 1 Dec 2019, 9:46 a.m.
Panel Version: 0.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with vanishing white matter, MIM#603896

History Filter Activity

1 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif2b2 has been classified as Red List (Low Evidence).

1 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896

1 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EIF2B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif2b2 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EIF2B2 was added gene: EIF2B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EIF2B2 was set to Unknown