Ataxia - paediatric
Gene: EIF2B1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related
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
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
Gene: eif2b1 has been classified as Green List (High Evidence).
Gene: eif2b1 has been classified as Green List (High Evidence).
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