PPFIBP1

PPFIA binding protein 1
OMIM: 603141, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PPFIBP1 in White matter disorders and cerebral calcification - narrow panel Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Green PPFIBP1 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.7 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Green PPFIBP1 in Childhood onset hereditary spastic paraplegia Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Green PPFIBP1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PPFIBP1-related neurodevelopmental disorder
Green PPFIBP1 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Green PPFIBP1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.12 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024