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Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KRIT1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cavernous malformations of CNS and retina, 116860 (3) | Cerebral cavernous malformations-1, 116860 (3) | Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860
  • Cerebral cavernous malformations-1, 116860
  • Cavernous malformations of CNS and retina, 116860
OMIM
604214
Clinvar variants
Variants in KRIT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

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