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Limb disorders

Gene: RECQL4

Green List (high evidence)

RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 18 panels

3 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype and across the reported phenotypes, clearly sufficient numbers of cases for causation.
Created: 11 May 2017, 10:29 a.m.
Comment on phenotypes: Each of these phenotypes have been reported with radial ray anomalies and biallelic mutations in RECQL4.
Created: 11 May 2017, 10:28 a.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 1:08 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400

Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
  • Baller-Gerold syndrome 218600
  • RAPILINO syndrome 266280
  • RAPILINO syndrome, 266280
  • Rothmund-Thomson syndrome, 268400
  • Rothmund-Thomson syndrome 268400
  • Baller-Gerold syndrome, 218600
Clinvar variants
Variants in RECQL4
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

16 Oct 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Added phenotypes Rothmund-Thomson syndrome, 268400; RAPILINO syndrome, 266280; Baller-Gerold syndrome, 218600 for gene: RECQL4

5 Apr 2018, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to RECQL4. Panel: Limb disorders Model of inheritance for gene RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to RECQL4. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RECQL4 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1


Ellen McDonagh (Genomics England Curator)

RECQL4 was created by Ellen McDonagh