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Ataxia - paediatric

Gene: EIF2B1

Green List (high evidence)

EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000111361
EnsemblGeneIds (GRCh37): ENSG00000111361
OMIM: 606686, Gene2Phenotype
EIF2B1 is in 15 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 31882561: heterozygous de novo variants in 5 patients with permanent neonatal/early onset diabetes and transient liver dysfunction (4 missense, 1 stop-loss). No functional studies performed, missense clustered within a small region (p.Leu34-Ser77).
Created: 28 Jul 2022, 3:51 a.m. | Last Modified: 28 Jul 2022, 3:51 a.m.
Panel Version: 1.179

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with vanishing white matter MIM#603896; permanent neonatal/early onset diabetes and transient liver dysfunction

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Created: 16 Apr 2020, 11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with vanishing white matter MIM#603896

History Filter Activity

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: eif2b1 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: eif2b1 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: EIF2B1 was added gene: EIF2B1 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter MIM#603896 Review for gene: EIF2B1 was set to GREEN