AP1S2

adaptor related protein complex 1 sigma 2 subunit
OMIM: 300629
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked syndromic 5, 304340
R-numbers: R57
Signed-off version 1.58
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dystonia, Mental retardation, X-linked syndromic 5, 304340
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION X-LINKED TYPE 59 300630
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION X-LINKED TYPE 59
R-numbers: R54
Signed-off version 2.13
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked syndromic 5, 304340, Pettigrew syndrome
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic 5
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked syndromic, Fried type, 300630, MENTAL RETARDATION X-LINKED TYPE 59 (MRX59)
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Calcifications in basal ganglia, Mental retardation, X-linked syndromic 5, 304340