Gene Symbol:
EIF2B2
HGNC:3258
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
14q24.3
Filters:

Genomics England PanelApp classifications

leukoencephalopathy with vanishing white matter
Submitted as: OMIM:603896
AR
01/28/2021
Evaluated
03/31/2021
Submitted

Illumina classifications

leukoencephalopathy with vanishing white matter
AR
06/17/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The EIF2B2 gene is located on chromosome 14 at 14q24.3 and encodes eukaryotic translation initiation... Read more

Invitae classifications

leukoencephalopathy with vanishing white matter 1
Submitted as: OMIM:603896
AR
09/07/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

ovarioleukodystrophy
Submitted as: Orphanet:99853
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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