Hereditary haemorrhagic telangiectasiaGene: KRIT1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cavernous malformations of CNS and retina 116860; Cerebral cavernous malformations-1 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860
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.
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.
KRIT1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
This gene has been classified as Red List (Low Evidence).
KRIT1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services
KRIT1 was created by ellenmcdonagh