DIS3L2

DIS3 like 3'-5' exoribonuclease 2
OMIM: 614184, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green DIS3L2 in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • Perlman syndrome, 267000
Green DIS3L2 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Perlman syndrome, 267000
Green DIS3L2 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Perlman syndrome 267000
    Green DIS3L2 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

    Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
    Level 2: Growth disorders
    Version 1.121

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Perlman syndrome, 267000
    Green DIS3L2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PERLMAN SYNDROME
    Green DIS3L2 in DDG2P


    Version 6.424
    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
    • PERLMAN SYNDROME 267000
    Red DIS3L2 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Perlman syndrome, 267000
    Green DIS3L2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO
    Tags
    • non-coding-known-pathogenic
    • deletions