PPFIBP1

PPFIA binding protein 1
OMIM: 603141, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber PPFIBP1 in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Tags Q4_23_promote_green
Amber PPFIBP1 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.68 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Tags Q4_23_promote_green
Amber PPFIBP1 in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Tags Q4_23_promote_green
Green PPFIBP1 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) 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 4.195 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) 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