MBTPS2

membrane bound transcription factor peptidase, site 2
OMIM: 300294
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME
R-numbers: R163
Signed-off version 1.10
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
scarring alopecia, KFSDX, Keratosis follicularis spinulosa decalvans, X-linked, 208800 (includes progressive cicatricial alopecia of the scalp)
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Keratosis follicularis spinulosa decalvans, X-linked 308800, IFAP syndrome with or without BRESHECK syndrome 308205
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
IFAP syndrome with or without BRESHECK syndrome 308205, IFAP syndrome with or without BRESHECK syndrome,308205, Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
R-numbers: R166
Signed-off version 1.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Olmstedt syndrome, IFAP syndrome, Keratosis follicularis spinulosa decalvans