1. Genes and Genomic Entities
  2. RECQL4

RECQL4

RecQ like helicase 4
OMIM: 603780, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Green RECQL4 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Baller-Gerold syndrome, OMIM:218600
  • RAPADILINO syndrome, OMIM:266280
  • Rothmund-Thomson syndrome, type 2, OMIM:268400
Green RECQL4 in COVID-19 research


Level 2: Viral research
Version 1.142

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 1.68

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 1.34

review Not set
Sources
  • Emory Genetics Laboratory
Green RECQL4 in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • Rothmund-Thomson syndrome, type 2, OMIM:268400
Green RECQL4 in Limb disorders


Version 4.23
Latest signed off version: v4.0 (22 Mar 2023)

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, OMIM:218600
    • RAPADILINO syndrome, OMIM:266280
    • Rothmund-Thomson syndrome, type 2, OMIM:268400
    Green RECQL4 in Pigmentary skin disorders


    Version 3.12
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Baller-Gerold syndrome, OMIM:218600
    • Rothmund-Thomson syndrome, type 2, OMIM:268400
    Red RECQL4 in Bilateral congenital or childhood onset cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    Phenotypes
    • Rothmund-Thomson syndrome, type 2, OMIM:268400
    Green RECQL4 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Version 4.202
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ESID Registry 20171117
    Phenotypes
    • Rothmund-Thomson syndrome, type 2, OMIM:268400
    • Combined immunodeficiency
    Green RECQL4 in Cutaneous photosensitivity with a likely genetic cause


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Rothmund-Thomson syndrome, type 2, OMIM:268400
    Green RECQL4 in Sarcoma cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.25

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rothmund-Thomson syndrome, type 2, OMIM:268400
    • Osteosarcoma
    Green RECQL4 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.27

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rothmund-Thomson syndrome, type 2, OMIM:268400
    Green RECQL4 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.65
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Baller-Gerold syndrome, OMIM:218600
    • RAPADILINO syndrome, OMIM:266280
    • Rothmund-Thomson syndrome, type 2, OMIM:268400
    Green RECQL4 in Non-syndromic familial congenital anorectal malformations

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Baller-Gerold syndrome, OMIM:218600
    • Rothmund-Thomson syndrome, type 2, OMIM:268400
    Green RECQL4 in Fetal anomalies


    Version 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Baller-Gerold syndrome, OMIM:218600
    • RAPADILINO syndrome, OMIM:266280
    • Rothmund-Thomson syndrome, type 2, OMIM:268400
    Green RECQL4 in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 4.180
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • 218600
    • Baller-Gerold syndrome 218600
    Green RECQL4 in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    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
    Amber RECQL4 in Growth failure in early childhood


    Version 3.95
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Rothmund-Thomson syndrome, type 2, OMIM:268400
    Tags
    • Q1_24_promote_green
    • Q1_24_NHS_review
    Red RECQL4 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.550
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 1.81
    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 1.184

    		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