Familial and multiple pulmonary arteriovenous malformations
Gene: KRIT1Comment 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.
This gene has been classified as Red List (Low Evidence).
Phenotypes for KRIT1 were set to Cavernous malformations of CNS and retina 116860; Cerebral cavernous malformations-1 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860
Mode of inheritance for KRIT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
KRIT1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
KRIT1 was created by ellenmcdonagh
KRIT1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Illumina TruGenome Clinical Sequencing Services