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  3. KRIT1
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Stroke

Gene: KRIT1

Green List (high evidence)
KRIT1 (KRIT1, ankyrin repeat containing)
EnsemblGeneIds (GRCh38): ENSG00000001631
EnsemblGeneIds (GRCh37): ENSG00000001631
OMIM: 604214, Gene2Phenotype
KRIT1 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Cases reported with intracerebral bleeding and cavernoma stroke subtypes.
Sources: Literature
Created: 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

Created: 10 May 2020, 10:10 p.m.

Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
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
OMIM
604214
Clinvar variants
Variants in KRIT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: krit1 has been classified as Green List (High Evidence).

10 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: krit1 has been classified as Green List (High Evidence).

10 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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