Hereditary haemorrhagic telangiectasia

Gene: KRIT1

Red List (low evidence)

KRIT1 (KRIT1, ankyrin repeat containing)
EnsemblGeneIds (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)

Red List (low evidence)

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

14 Dec 2016, Gel status: 1

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

14 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KRIT1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services

14 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KRIT1 was created by ellenmcdonagh