Genomics England
GMS Panels
Panels
Genes and Entities

KRIT1

KRIT1, ankyrin repeat containing
OMIM: 604214
PanelMode of inheritanceDetails
4 panels
Green
in Cerebral vascular malformations
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 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 116860
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1
Green
in Vascular skin disorders
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CEREBRAL CAVERNOUS MALFORMATIONS, 116860