RECQL4

RecQ like helicase 4
OMIM: 603780, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green RECQL4 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Baller-Gerold syndrome, 218600
  • RAPILINO syndrome, 266280
  • Rothmund-Thomson syndrome, 268400

Green RECQL4 in COVID-19 research


Level 2: Viral research
Version 1.77

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ESID Registry 20171117
  • ESID Registry 20171117
Phenotypes
  • Rothmund-Thomson syndrome, 268400
  • Combined immunodeficiency

Red RECQL4 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Rothmund-Thomson syndrome 268400

Red RECQL4 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.31

review Not set
Sources
  • Emory Genetics Laboratory

Green RECQL4 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.17
Latest signed off version: v2.5 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • Rothmund Thomson Syndrome
  • 268400

Green RECQL4 in Limb disorders


Version 2.41
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Baller-Gerold syndrome 218600
    • RAPILINO syndrome 266280
    • RAPILINO syndrome, 266280
    • Rothmund-Thomson syndrome, 268400
    • Rothmund-Thomson syndrome 268400
    • Baller-Gerold syndrome, 218600

    Green RECQL4 in Pigmentary skin disorders


    Version 1.10
    Latest signed off version: v1.4 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Rothmund-Thompson syndrome
    • RTS2
    • RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2

    Red RECQL4 in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.74
    Latest signed off version: v2.2 (19 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    Phenotypes
    • Rothmund-Thomson syndrome, 268400
    • RAPADILINO syndrome, 266280
    • Baller-Gerold syndrome, 218600
    • Rothmund-Thomson syndrome

    Amber RECQL4 in Primary immunodeficiency


    Version 2.421
    Latest signed off version: v2.1 (24 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • ESID Registry 20171117
    Phenotypes
    • Combined immunodeficiency
    • Rothmund-Thomson syndrome, 268400
    Tags
    • for-review

    Green RECQL4 in Cutaneous photosensitivity with a likely genetic cause


    Version 1.7
    Latest signed off version: v1.3 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Rothmund-Thomson syndrome, 268400

    Green RECQL4 in Sarcoma cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.20

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes
    • Osteosarcoma

    Green RECQL4 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.14

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rothmund Thomson Syndrome

    Green RECQL4 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.97
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • RAPILINO syndrome 266280
    • Rothmund-Thomson syndrome 268400
    • Baller-Gerold syndrome 218600

    Green RECQL4 in Non-syndromic familial congenital anorectal malformations

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Baller-Gerold syndrome 218600
    • Rothmund-Thomson syndrome 268400

    Green RECQL4 in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RAPADILINO SYNDROME
    • ROTHMUND-THOMSON SYNDROME
    • BALLER-GEROLD SYNDROME

    Green RECQL4 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.23
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • 218600
    • Baller-Gerold syndrome 218600

    Green RECQL4 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RAPADILINO SYNDROME 266280
    • BALLER-GEROLD SYNDROME 218600
    • ROTHMUND-THOMSON SYNDROME 268400

    Red RECQL4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1080
    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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO

    Green RECQL4 in Sarcoma susceptibility


    Version 1.69
    Latest signed off version: v1.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • RAPADILINO syndrome, OMIM:266280
    • Rothmund-Thomson syndrome, type 2, OMIM:268400
    • Osteosarcoma (disease), MONDO:0009807

    Green RECQL4 in Severe Paediatric Disorders


    Version 1.77

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • RAPADILINO syndrome, 266280
    • Baller-Gerold syndrome, 218600
    • Rothmund-Thomson syndrome, type 2,, 268400