Hereditary ataxia with onset in adulthood
Gene: IRF2BPL

IRF2BPL (interferon regulatory factor 2 binding protein like)
EnsemblGeneIds (GRCh38): ENSG00000119669
EnsemblGeneIds (GRCh37): ENSG00000119669
OMIM: 611720, Gene2Phenotype
IRF2BPL is in 6 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

7 denovo mutations reported by Marcogliese PC et al. Ataxia is a feature in 5 patients and seizures in the other 2.
Created: 27 Apr 2019, 7:39 p.m.

Created: 27 Apr 2019, 7:39 p.m.

Panel version: 1.11

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group

Created: 27 Apr 2019, 8:55 p.m.

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.14

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple individuals and variants reported within the one paper
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
London North GLH
NHS GMS
Wessex and West Midlands GLH

Phenotypes

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

OMIM

611720

Clinvar variants

Variants in IRF2BPL

Penetrance

None

Publications

Panels with this gene

History Filter Activity

14 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: IRF2BPL were set to

14 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: IRF2BPL were changed from Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 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

27 Apr 2019, Gel status: 3