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  3. IRF2BPL
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Ataxia - paediatric

Gene: IRF2BPL

Green List (high 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 12 Sep 2020, 4:17 a.m.
Last Modified: 12 Sep 2020, 4:17 a.m.
Panel version: 0.240

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

LOF proven
Created: 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

Created: 30 Jan 2020, 10:36 p.m.
Last Modified: 30 Jan 2020, 10:36 p.m.
Panel version: Imported from Mendeliome panel version 0.1054

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088
OMIM
611720
Clinvar variants
Variants in IRF2BPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: irf2bpl has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IRF2BPL were set to

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

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