KRIT1

KRIT1, ankyrin repeat containing
OMIM: 604214, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green KRIT1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.51
Latest signed off version: v2.2 (2 Mar 2020)

review 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

Red KRIT1 in Hereditary haemorrhagic telangiectasia

Level 3: Vascular lung disorders
Level 2: Respiratory disorders
Version 2.6
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cavernous malformations of CNS and retina 116860
  • Cerebral cavernous malformations-1 116860
  • Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860

Green KRIT1 in Vascular skin disorders


Version 1.47
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860

Green KRIT1 in Fetal anomalies


Version 1.677
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1

Green KRIT1 in DDG2P


Version 2.27
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 116860

    Red KRIT1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1130
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert Review Red
    Phenotypes
    • CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 (CCM1)

    Green KRIT1 in Severe Paediatric Disorders


    Version 1.78

    review 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