Genomics England

IRF2BPL

interferon regulatory factor 2 binding protein like

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	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 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neurological Phenotypes
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	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 Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	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, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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