Cerebral vascular malformations
Gene: KRIT1EnsemblGeneIds (GRCh38): ENSG00000001631
EnsemblGeneIds (GRCh37): ENSG00000001631
OMIM: 604214, Gene2Phenotype
KRIT1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 8:31 a.m. | Last Modified: 9 Oct 2020, 8:31 a.m.
Panel Version: 0.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Cavernous malformations of CNS and retina, 116860
- Cerebral cavernous malformations-1, 116860
- Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860
- Tags
- OMIM
- 604214
- Clinvar variants
- Variants in KRIT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: krit1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KRIT1 were changed from Cerebral cavernous malformations 1; Cerebral cavernous malformations-1, 116860; Cerebral Cavernous Malformations; Cerebral Cavernous Malformation; Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas; Familial Cerebral Cavernous Malformation; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 to Cavernous malformations of CNS and retina, 116860; Cerebral cavernous malformations-1, 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: KRIT1.
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: KRIT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KRIT1 was added gene: KRIT1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRIT1 were set to 10508515; 20301470 Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations 1; Cerebral cavernous malformations-1, 116860; Cerebral Cavernous Malformations; Cerebral Cavernous Malformation; Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas; Familial Cerebral Cavernous Malformation; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860