Genomics England

PPFIBP1

PPFIA binding protein 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PPFIBP1-related neurodevelopmental disorder
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 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024