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Ataxia - adult onset

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

Created: 28 Jul 2022, 10:21 p.m.
Last Modified: 28 Jul 2022, 10:21 p.m.
Panel version: Imported from Mendeliome panel version 1.187

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

Created: 28 Jul 2022, 3:51 a.m.
Last Modified: 28 Jul 2022, 3:51 a.m.
Panel version: Imported from Mendeliome panel version 1.179

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association. The condition is also known as childhood ataxia with central nervous system hypomyelination / vanishing white matter (CACH/VWM) and is characterised by ataxia, spasticity, and variable optic atrophy.
Created: 30 Mar 2022, 12:59 a.m. | Last Modified: 30 Mar 2022, 12:59 a.m.
Panel Version: 0.12298

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Mar 2022, 12:59 a.m.
Last Modified: 30 Mar 2022, 12:59 a.m.
Panel version: Imported from Mendeliome panel version 0.12298

Details

Mode of Inheritance
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
OMIM
606686
Clinvar variants
Variants in EIF2B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EIF2B1 was added gene: EIF2B1 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B1 were set to 31438897 Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease