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 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and Epileptic Encephalopathy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
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