Genomics England
GMS Panels
Panels
Genes and Entities

PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1
OMIM: 601545
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SUBCORTICAL BAND HETEROTOPIA 607432, LISSENCEPHALY TYPE 1 607432
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 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 1, OMIM:607432, Subcortical laminar heterotopia, OMIM:607432
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 1, OMIM:607432, Subcortical laminar heterotopia, OMIM:607432
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lissencephaly 1, OMIM:607432, Subcortical laminar heterotopia, OMIM:607432
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 1, OMIM:607432, Subcortical laminar heterotopia, OMIM:607432
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 1, OMIM:607432, Subcortical laminar heterotopia, OMIM:607432