Cerebral vascular malformations

Gene: KRIT1

Green List (high evidence)

KRIT1 (KRIT1, ankyrin repeat containing)
EnsemblGeneIds (GRCh38): ENSG00000001631
EnsemblGeneIds (GRCh37): ENSG00000001631
OMIM: 604214, Gene2Phenotype
KRIT1 is in 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 rating
Created: 29 Nov 2019, 6:58 p.m. | Last Modified: 29 Nov 2019, 6:58 p.m.
Panel Version: 1.67

Alice Gardham (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral cavernous malformations-1 116860

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
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 Fistulas
OMIM
604214
Clinvar variants
Variants in KRIT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to KRIT1.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to KRIT1.

13 Sep 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: KRIT1 were set to 10508515, 20301470

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KRIT1 were set to 10508515, 20301470

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

9 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

KRIT1 was added to Cerebrovascular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

9 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KRIT1 was added to Cerebrovascular disorderspanel. Source: UKGTN

9 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KRIT1 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KRIT1 was created by ellenmcdonagh