TRIM8

tripartite motif containing 8
OMIM: 606125, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TRIM8 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.99

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • nephrotic syndrome
    • epilepsy
    • Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428

    Amber TRIM8 in Unexplained paediatric onset end-stage renal disease


    Version 1.23
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • nephrotic syndrome
    • epilepsy
    • Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428
    Tags
    • Q4_21_rating

    Green TRIM8 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.450
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Early-onset epileptic encephalopathy (EOEE)
    • EE
    • Seizures

    Green TRIM8 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1394
    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, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures

    Amber TRIM8 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 2.61
    Latest signed off version: v2.32 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • nephrotic syndrome
    • epilepsy
    • Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428
    Tags
    • Q4_21_rating

    Green TRIM8 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Seizures
    • Global developmental delay
    • Intellectual disability