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Vascular skin disorders
Gene: KRIT1

KRIT1 (KRIT1, ankyrin repeat containing)
EnsemblGeneIds (GRCh38): ENSG00000001631
EnsemblGeneIds (GRCh37): ENSG00000001631
OMIM: 604214, Gene2Phenotype
KRIT1 is in 6 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Publications

10508515

Created: 9 Dec 2019, 4:11 p.m.
Last Modified: 9 Dec 2019, 4:11 p.m.
Panel version: 0.24

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: KRIT1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 12:05 p.m.

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

Created: 31 Jan 2019, 12:05 p.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

London North GLH
NHS GMS
Expert Review Green

Phenotypes

CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860

OMIM

604214

Clinvar variants

Variants in KRIT1

Penetrance

None

Publications

10508515

Panels with this gene

History Filter Activity

22 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS, 116860 to CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860

22 Mar 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: KRIT1 were set to

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to KRIT1.

31 Jan 2019, Gel status: 4

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