Vascular Malformations_Germline
Gene: KRIT1
American-Hispanic founder mutation: c.1363C>T, p.Gln455*/Q248* (OMIM). Sardinian founder mutation: C329X (OMIM)Created: 31 Jan 2020, 11:24 a.m. | Last Modified: 9 Oct 2020, 8:32 a.m.
Panel Version: 0.113
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral cavernous malformations-1 116860; Cavernous malformations of CNS and retina 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860
1. Mutations in KRIT1 are predominantly nonsense or frameshift mutations resulting in premature stop codons (PMID: 29593473)
2. Incomplete penetrance observed in inherited CCM (PMID: 16571644; OMIM)Created: 31 Jan 2020, 3:59 a.m. | Last Modified: 31 Jan 2020, 3:59 a.m.
Panel Version: 0.60
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
1. Cavernous malformations of CNS and retina, 116860, AD; 2. Cerebral cavernous malformations-1, 116860, AD; 3. Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860, AD
Publications
Tag founder tag was added to gene: KRIT1.
Gene: krit1 has been classified as Green List (High Evidence).
Publications for gene: KRIT1 were set to
gene: KRIT1 was added gene: KRIT1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 116860; Cavernous malformations of CNS and retina 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860