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 2.8
Signed off v.2.2 on 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, 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

Red KRIT1 in Hereditary haemorrhagic telangiectasia

Level 3: Vascular lung disorders
Level 2: Respiratory disorders
Version 2.6
Signed off v.2.2 on 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 1.4
Signed off v.1.3 on 15 Oct 2020

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

Green KRIT1 in Fetal anomalies


Version 1.634
Signed off v.1.92 on 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 2.21
Signed off v.2.2 on 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 3.977
    Signed off v.3.2 on 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 1.65

    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