PORCN

porcupine O-acyltransferase
OMIM: 300651
PanelMode of inheritanceDetails
9 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Focal dermal hypoplasia, 305600, GOLTZ SYNDROME
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
FOCAL DERMAL HYPOPLASIA 305600
R-numbers: R163
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Focal dermal hypoplasia 305600
R-numbers: R21, R412
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
FOCAL DERMAL HYPOPLASIA
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Focal dermal hypoplasia, 305600, FOCAL DERMAL HYPOPLASIA (FODH)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
focal dermal hypoplasia 305600, Polydactyly
R-numbers: R327
Signed-off version 2.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Focal dermal hypoplasia, OMIM:305600, focal dermal hypoplasia, MONDO:0010592
R-numbers: R236
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Angioma serpiginosa, FOCAL DERMAL HYPOPLASIA, Focal dermal hypoplasia, FDH
R-numbers: R36
Signed-off version 3.79
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Focal dermal hypoplasia 305600