Genomics England
GMS Panels
Panels
Genes and Entities

PNPLA8

patatin like phospholipase domain containing 8
OMIM: 612123
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PNPLA8-related progressive microcephaly with seizures and neurodegeneration
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial myopathy with lactic acidosis, OMIM:251950
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial myopathy with lactic acidosis, 251950
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial myopathy with lactic acidosis, 251950
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial myopathy with lactic acidosis, 251950