KRIT1

KRIT1, ankyrin repeat containing
OMIM: 604214
PanelMode of inheritanceDetails
4 panels
R-numbers: R336
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebral cavernous malformations-1, OMIM:116860, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, OMIM:116860, Cavernous malformations of CNS and retina, OMIM:116860
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860
R-numbers: R21, R412
Signed-off version 4.0
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