Genomics England
GMS Panels
Panels
Genes and Entities

PIDD1

p53-induced death domain protein 1
OMIM: 605247
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PIDD1-related neurodevelopmental disorder
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Autism, Behavioral abnormality, Psychosis, Pachygyria, Lissencephaly, Abnormality of the corpus callosum
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, OMIM:619827
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Global developmental delay, Intellectual disability, Seizures, Autism, Behavioral abnormality, Psychosis, Pachygyria, Lissencephaly, Abnormality of the corpus callosum
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Pachygyria, Lissencephaly, Seizures