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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SUBCORTICAL BAND HETEROTOPIA 607432, LISSENCEPHALY TYPE 1 607432
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LISSENCEPHALY TYPE 1, SUBCORTICAL BAND HETEROTOPIA
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 1 607432
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia, LISSENCEPHALY TYPE 1 (LIS1)
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 1 607432, Subcortical laminar heterotopia 607432
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Lissencephaly 1, Cerebral Malformation Disorders, Lissencephaly/Subcortical Band Heterotopia