Ataxia - paediatric
Gene: IRF2BPL
Progressive ataxia is a feature reported in the original cohort of 7 unrelated patients.Created: 12 Sep 2020, 4:17 a.m. | Last Modified: 12 Sep 2020, 4:17 a.m.
Panel Version: 0.240
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088
Publications
LOF provenCreated: 30 Jan 2020, 10:36 p.m. | Last Modified: 30 Jan 2020, 10:36 p.m.
Panel Version: 0.1054
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Publications
Gene: irf2bpl has been classified as Green List (High Evidence).
Publications for gene: IRF2BPL were set to
gene: IRF2BPL was added gene: IRF2BPL was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088