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Genetic Epilepsy

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)

PMID: 30057031 - 7 patients with neurodevelopmental regression (5/7), progressive ataxia (5/7), seizures (7/7), spasticity (2/7), dystonia (3/7) and global devel delay (7/7). PTCs produced a more severe phenotype than missense. Onset was in childhood. Cerebellar changes also less frequently reported.

PMID: 30166628 - 11 patients with de novo PTCs with childhood neurological regression, epilepsy (7/11), hypotonia (5/11), dystonia (3/11), cerebellar atrophy (5/10). MRI showed CNS defects in 6/10 patients.
Created: 6 Sep 2020, 6:07 a.m. | Last Modified: 6 Sep 2020, 6:07 a.m.
Panel Version: 0.843

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088
OMIM
611720
Clinvar variants
Variants in IRF2BPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 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).

6 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IRF2BPL were changed from to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088

6 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IRF2BPL were set to

6 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IRF2BPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IRF2BPL was added gene: IRF2BPL was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IRF2BPL was set to Unknown