IRF2BPL

interferon regulatory factor 2 binding protein like
OMIM: 611720, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green IRF2BPL in Ataxia and cerebellar anomalies - narrow panel Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list 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
Amber IRF2BPL in Autism Version 0.36	review	Not set	Sources Expert Review Amber SFARI
Green IRF2BPL in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Neurological Phenotypes
Green IRF2BPL in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.10 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Literature 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
Green IRF2BPL in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature 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
Green IRF2BPL in Hereditary ataxia with onset in adulthood Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	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
Green IRF2BPL in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list 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
Green IRF2BPL in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088