Stroke
Gene: KRIT1
Incomplete penetrance for familial CCM (PMID: 16571644; OMIM)
Intra- and interfamilial variability reported (PMID: 29593473).
Mutations in KRIT1 are predominantly nonsense or frameshift mutations resulting in premature stop codons
American-Hispanic founder mutation: c.1363C>T, p.Gln455*/Q248* (OMIM).
Sardinian founder mutation: C329X (OMIM)Created: 9 Oct 2020, 5:05 a.m. | Last Modified: 9 Oct 2020, 5:05 a.m.
Panel Version: 0.4849
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cavernous malformations of CNS and retina, 116860; Cerebral cavernous malformations-1, 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860
Publications
Cases reported with intracerebral bleeding and cavernoma stroke subtypes.
Sources: LiteratureCreated: 10 May 2020, 10:10 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cavernous malformations of CNS and retina MIM#116860; Cerebral cavernous malformations-1 MIM#116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860
Publications
Gene: krit1 has been classified as Green List (High Evidence).
Gene: krit1 has been classified as Green List (High Evidence).
gene: KRIT1 was added gene: KRIT1 was added to Stroke. Sources: Literature Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRIT1 were set to 30356112; 14755725; 11310633; 9811928 Phenotypes for gene: KRIT1 were set to Cavernous malformations of CNS and retina MIM#116860; Cerebral cavernous malformations-1 MIM#116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860 Review for gene: KRIT1 was set to GREEN