AP1S2

adaptor related protein complex 1 sigma 2 subunit
OMIM: 300629
PanelMode of inheritanceDetails
7 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pettigrew syndrome, OMIM:304340
R-numbers: R57
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Pettigrew syndrome, OMIM:304340, Dystonia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION X-LINKED TYPE 59 300630
R-numbers: R21, R412
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Pettigrew syndrome, OMIM:304340
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 3.5
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Pettigrew syndrome, OMIM:304340
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Pettigrew syndrome, OMIM:304340
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pettigrew syndrome, OMIM:304340, Calcifications in basal ganglia