Genomics England
GMS Panels
Panels
Genes and Entities

AP2M1

adaptor related protein complex 2 mu 1 subunit
OMIM: 601024
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and Epileptic Encephalopathy
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 4.134
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual developmental disorder 60 with seizures, 618587, Seizures, Ataxia, Generalized hypotonia, Intellectual disability, Global developmental delay, Autistic behavior
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual developmental disorder 60 with seizures, 618587, Seizures, Ataxia, Generalized hypotonia, Intellectual disability, Global developmental delay, Autistic behavior