AP2M1

adaptor related protein complex 2 mu 1 subunit
OMIM: 601024, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green AP2M1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Developmental and Epileptic Encephalopathy
Green AP2M1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH NHS GMS Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Intellectual developmental disorder 60 with seizures, 618587 Seizures Ataxia Generalized hypotonia Intellectual disability Global developmental delay Autistic behavior Tags missense
Green AP2M1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Expert Review Green Expert Review Literature Phenotypes Intellectual developmental disorder 60 with seizures, 618587 Seizures Ataxia Generalized hypotonia Intellectual disability Global developmental delay Autistic behavior Tags missense