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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 6 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment 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 Fistulas
Created: 25 Mar 2021, 2:05 p.m. | Last Modified: 25 Mar 2021, 2:05 p.m.
Panel Version: 2.15
Created: 25 Mar 2021, 2:05 p.m.
Last Modified: 25 Mar 2021, 2:05 p.m.
Panel version: 2.15

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
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

Created: 12 Dec 2016, 9:37 a.m.

Panel version: 0.12

Details

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

History Filter Activity

25 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

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