Ataxia and cerebellar anomalies - narrow panel
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

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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

Created: 5 Feb 2023, 5:18 p.m.
Last Modified: 5 Feb 2023, 5:18 p.m.
Panel version: 3.30

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 14 Apr 2021, 3:07 p.m.
Last Modified: 14 Apr 2021, 3:07 p.m.
Panel version: 2.105

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Progressive ataxia is a feature reported in the original cohort of 7 unrelated patients.
Sources: Expert list
Created: 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

30057031

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 Sep 2020, 4:19 a.m.

Panel version: 2.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

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

5 Feb 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: IRF2BPL.

5 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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)

14 Apr 2021, Gel status: 2