Fetal anomalies
Gene: PAFAH1B1

PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000007168
EnsemblGeneIds (GRCh37): ENSG00000007168
OMIM: 601545, Gene2Phenotype
PAFAH1B1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Lissencephaly due to PAFAH1B1 (prev known as LIS1) mutation is a cerebral malformation with epilepsy characterised predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Note deletions are common.
Created: 29 Aug 2020, 3:43 a.m. | Last Modified: 29 Aug 2020, 3:43 a.m.

Panel Version: 0.2891

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830

Publications

Created: 29 Aug 2020, 3:43 a.m.
Last Modified: 29 Aug 2020, 3:43 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2891

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Lissencephaly 1, MIM# 607432
Subcortical laminar heterotopia, MIM# 607432
MONDO:0011830

OMIM

601545

Clinvar variants

Variants in PAFAH1B1

Penetrance

None

Publications

Panels with this gene