Hereditary haemorrhagic telangiectasia
Gene: KRIT1EnsemblGeneIds (GRCh38): ENSG00000001631
EnsemblGeneIds (GRCh37): ENSG00000001631
OMIM: 604214, Gene2Phenotype
KRIT1 is in 6 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
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
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a both DD and IF Developmental Disorder Gene / G2P. At least 11 variants reported. This phenotype is not relevant to this panel according to expert reviewer Claire Shovlin (Imperial College London)Created: 13 Dec 2016, 2:55 p.m.
Claire Shovlin (Imperial College London)
The cerebral cavernous malformations type 1 (CCM1) syndrome caused by Krit1) pathogenic variants (PMID:10508515; PMID:10545614), and very old report of Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas of the legs (PMID:7826098) are clinically distinct to the syndrome of hereditary haemorrhagic telangiectasia which is commonly associated with pulmonary arteriovenous malformations. I am not aware that Krit1 has been shown to be associated with pulmonary arteriovenous malformations.
Created: 13 Nov 2016, 11:33 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Cavernous malformations of CNS and retina 116860
- Cerebral cavernous malformations-1 116860
- Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860
- OMIM
- 604214
- Clinvar variants
- Variants in KRIT1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Upload gene information
Ellen McDonagh (Genomics England Curator)KRIT1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)KRIT1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services
Created
Ellen McDonagh (Genomics England Curator)KRIT1 was created by ellenmcdonagh