Ataxia - paediatric
Gene: EIF2B1EnsemblGeneIds (GRCh38): ENSG00000111361
EnsemblGeneIds (GRCh37): ENSG00000111361
OMIM: 606686, Gene2Phenotype
EIF2B1 is in 15 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related
Elena Savva (Victorian Clinical Genetics Services)
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
- PMID: 31882561
Bryony Thompson (Royal Melbourne Hospital)
Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert listCreated: 16 Apr 2020, 11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with vanishing white matter MIM#603896
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Leukoencephalopathy with vanishing white matter MIM#603896
- OMIM
- 606686
- Clinvar variants
- Variants in EIF2B1
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Monogenic Diabetes
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Regression
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Ataxia - adult onset
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: eif2b1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: eif2b1 has been classified as Green List (High Evidence).
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