PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1
OMIM: 601545, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red PAFAH1B1 in Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.15 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Yorkshire and North East GLH NHS GMS Expert Review Red UKGTN Phenotypes Lissencephaly 1, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432
Green PAFAH1B1 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Lissencephaly 1, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432
Green PAFAH1B1 in Malformations of cortical development Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 4.26 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cerebral malformation	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Eligibility statement prior genetic testing Phenotypes Lissencephaly 1, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432
Green PAFAH1B1 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Lissencephaly 1, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432
Green PAFAH1B1 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Lissencephaly 1, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432
Green PAFAH1B1 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUBCORTICAL BAND HETEROTOPIA 607432 LISSENCEPHALY TYPE 1 607432
Green PAFAH1B1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Lissencephaly 1, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432
Green PAFAH1B1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Emory Genetics Laboratory Phenotypes Lissencephaly 1, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432
Green PAFAH1B1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Lissencephaly 1, 607432 Subcortical laminar heterotopia, 607432