KRIT1

KRIT1, ankyrin repeat containing
OMIM: 604214
PanelMode of inheritanceDetails
4 panels
R-numbers: R336
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebral cavernous malformations-1, 116860, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860, Cerebral Cavernous Malformation, Cerebral cavernous malformations 1, Cerebral Cavernous Malformations, Familial Cerebral Cavernous Malformation, Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 116860
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CEREBRAL CAVERNOUS MALFORMATIONS, 116860