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  3. KRIT1
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Vascular Malformations_Germline

Gene: KRIT1

Green List (high evidence)
KRIT1 (KRIT1, ankyrin repeat containing)
EnsemblGeneIds (GRCh38): ENSG00000001631
EnsemblGeneIds (GRCh37): ENSG00000001631
OMIM: 604214, Gene2Phenotype
KRIT1 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

American-Hispanic founder mutation: c.1363C>T, p.Gln455*/Q248* (OMIM). Sardinian founder mutation: C329X (OMIM)
Created: 31 Jan 2020, 11:24 a.m. | Last Modified: 9 Oct 2020, 8:32 a.m.
Panel Version: 0.113

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral cavernous malformations-1 116860; Cavernous malformations of CNS and retina 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860

Created: 31 Jan 2020, 11:24 a.m.
Last Modified: 9 Oct 2020, 8:32 a.m.
Panel version: Imported from Vascular Maformations panel version 0.1

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

1. Mutations in KRIT1 are predominantly nonsense or frameshift mutations resulting in premature stop codons (PMID: 29593473)
2. Incomplete penetrance observed in inherited CCM (PMID: 16571644; OMIM)
Created: 31 Jan 2020, 3:59 a.m. | Last Modified: 31 Jan 2020, 3:59 a.m.
Panel Version: 0.60

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
1. Cavernous malformations of CNS and retina, 116860, AD; 2. Cerebral cavernous malformations-1, 116860, AD; 3. Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860, AD

Publications

Created: 31 Jan 2020, 3:59 a.m.
Last Modified: 31 Jan 2020, 3:59 a.m.
Panel version: 0.60

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
Phenotypes
  • Cerebral cavernous malformations-1 116860
  • Cavernous malformations of CNS and retina 116860
  • Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860
Tags
founder
OMIM
604214
Clinvar variants
Variants in KRIT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: KRIT1.

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krit1 has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KRIT1 were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: KRIT1 was added gene: KRIT1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 116860; Cavernous malformations of CNS and retina 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860