Genomics England

IRF2BPL

interferon regulatory factor 2 binding protein like

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neurological Phenotypes
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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