Genomics England
GMS Panels
Panels
Genes and Entities

PIGQ

phosphatidylinositol glycan anchor biosynthesis class Q
OMIM: 605754
PanelMode of inheritanceDetails
3 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome-4, OMIM:618548
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548