INTS11

integrator complex subunit 11
OMIM: 611354, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green INTS11 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.76
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
    Amber INTS11 in Optic neuropathy


    Level 2: Ophthalmology
    Version 5.54
    Latest signed off version: v5.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
    Tags
    • Q1_26_promote_green
    Green INTS11 in Severe microcephaly


    Level 2: Neurology
    Version 8.43
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
    Green INTS11 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
    Green INTS11 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
    Green INTS11 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
    Amber INTS11 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.116
    Latest signed off version: v8.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
    Tags
    • Q1_26_promote_green
    • Q1_26_NHS_review