Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: IRF2BPL

Amber List (moderate evidence)

IRF2BPL (interferon regulatory factor 2 binding protein like)
EnsemblGeneIds (GRCh38): ENSG00000119669
EnsemblGeneIds (GRCh37): ENSG00000119669
OMIM: 611720, Gene2Phenotype
IRF2BPL is in 8 panels

2 reviews

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

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
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
Tags
Q2_21_rating
OMIM
611720
Clinvar variants
Variants in IRF2BPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: irf2bpl has been classified as Amber List (Moderate Evidence).

14 Apr 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: IRF2BPL were set to 30057031; 30166628

14 Apr 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: IRF2BPL were set to 30057031

14 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

14 Apr 2021, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: IRF2BPL.

12 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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