PanelApp
  1. Genes and Genomic Entities
  2. RECQL4

RECQL4

RecQ like helicase 4
OMIM: 603780, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green RECQL4 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rothmund-Thomson syndrome, type 2, MIM# 268400
  • RAPADILINO syndrome, MIM# 266280
  • Baller-Gerold syndrome, MIM# 218600
  • RECON progeroid syndrome, MIM# 620370

Green RECQL4 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.72

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Baller-Gerold syndrome, MIM# 218600

Green RECQL4 in Mendeliome


Version 1.3512

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Baller-Gerold syndrome, MIM# 218600
  • RAPADILINO syndrome, MIM# 266280
  • Rothmund-Thomson syndrome, type 2,MIM# 268400
  • RECON progeroid syndrome, MIM# 620370

Green RECQL4 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.132

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green RECQL4 in Photosensitivity Syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Rothmund-Thomson syndrome, type 2, (MIM#268400)

Green RECQL4 in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.19

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Baller-Gerold syndrome, MIM# 218600
    • RAPADILINO syndrome, MIM# 266280
    • Rothmund-Thomson syndrome, type 2,MIM# 268400

    Green RECQL4 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.138

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rothmund-Thomson syndrome MONDO:0010002

    Red RECQL4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Baller-Gerold syndrome, MIM#218600
    • RAPADILINO syndrome, MIM#266280
    • Rothmund-Thomson syndrome, type 2,MIM#268400

    Green RECQL4 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

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

    Green RECQL4 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Baller-Gerold syndrome, 218600 (3)

    Green RECQL4 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.388

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Rothmund-Thomson syndrome, MONDO:0010002

    Green RECQL4 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Baller-Gerold syndrome
    • Rothmund-Thomson syndrome
    • Rapadilino syndrome

    Green RECQL4 in Growth failure


    Version 1.83

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Rothmund-Thomson syndrome, type 2, MIM# 268400
    • RAPADILINO syndrome, MIM# 266280
    • Baller-Gerold syndrome, MIM# 218600

    Green RECQL4 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.78

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Rothmund-Thomson syndrome 268400
    • RAPILINO syndrome 266280
    • Baller-Gerold syndrome 218600

    Green RECQL4 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Baller-Gerold syndrome, MIM# 218600
    • RAPADILINO syndrome, MIM# 266280
    • Rothmund-Thomson syndrome, type 2,MIM#268400

    Green RECQL4 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Baller-Gerold syndrome, MIM# 218600
    • RAPADILINO syndrome, MIM# 266280
    • Rothmund-Thomson syndrome, type 2,MIM# 268400

    Red RECQL4 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Rothmund-Thomson syndrome, type 2, MIM# 268400

    Green RECQL4 in Sarcoma non-soft tissue


    Level 2: Cancer Predisposition
    Version 1.1

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Sarcoma, MONDO:0005089
    • Rothmund-Thomson syndrome type 2, MONDO:0016369
    • Rothmund-Thomson syndrome, type 2, MIM#268400