Ataxia and cerebellar anomalies - narrow panel
Gene: IRF2BPL
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 14 Apr 2021, 3:16 p.m. | Last Modified: 14 Apr 2021, 3:16 p.m.
Panel Version: 2.108
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least seven variants reported in seven unrelated cases.Created: 14 Apr 2021, 3:07 p.m. | Last Modified: 14 Apr 2021, 3:07 p.m.
Panel Version: 2.105
Progressive ataxia is a feature reported in the original cohort of 7 unrelated patients.
Sources: Expert listCreated: 12 Sep 2020, 4:19 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: IRF2BPL.
Source Expert Review Green was added to IRF2BPL. Source NHS GMS was added to IRF2BPL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: irf2bpl has been classified as Amber List (Moderate Evidence).
Publications for gene: IRF2BPL were set to 30057031; 30166628
Publications for gene: IRF2BPL were set to 30057031
Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088 to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088; neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759
Tag Q2_21_rating tag was added to gene: IRF2BPL.
gene: IRF2BPL was added gene: IRF2BPL was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF2BPL were set to 30057031 Phenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088 Review for gene: IRF2BPL was set to GREEN gene: IRF2BPL was marked as current diagnostic