Cerebral vascular malformations
Gene: KRIT1Comment on phenotypes: Previous phenotypes:
Cerebral cavernous malformations-1, 116860 ;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860;Cerebral Cavernous Malformation;Cerebral cavernous malformations 1 ;Cerebral Cavernous Malformations;Familial Cerebral Cavernous Malformation;Angiokeratoma Corporis Diffusum with Arteriovenous FistulasCreated: 25 Mar 2021, 2:05 p.m. | Last Modified: 25 Mar 2021, 2:05 p.m.
Panel Version: 2.15
Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green ratingCreated: 29 Nov 2019, 6:58 p.m. | Last Modified: 29 Nov 2019, 6:58 p.m.
Panel Version: 1.67
Phenotypes for gene: KRIT1 were changed from Cerebral cavernous malformations-1, 116860 ; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral Cavernous Malformation; Cerebral cavernous malformations 1 ; Cerebral Cavernous Malformations; Familial Cerebral Cavernous Malformation; Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas to Cerebral cavernous malformations-1, OMIM:116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, OMIM:116860; Cavernous malformations of CNS and retina, OMIM:116860
Source Yorkshire and North East GLH was added to KRIT1.
Source NHS GMS was added to KRIT1.
Publications for gene: KRIT1 were set to 10508515, 20301470
Publications for KRIT1 were set to 10508515, 20301470
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
KRIT1 was added to Cerebrovascular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
KRIT1 was added to Cerebrovascular disorderspanel. Source: UKGTN
KRIT1 was added to Cerebrovascular disorderspanel. Source: Emory Genetics Laboratory Model of inheritance for gene KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KRIT1 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
KRIT1 was created by ellenmcdonagh