Sarcoma susceptibility

Gene: RECQL4

Green List (high evidence)

RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with Baller-Gerold syndrome, OMIM:218600
Created: 11 Mar 2021, 10:14 a.m. | Last Modified: 11 Mar 2021, 10:14 a.m.
Panel Version: 1.16

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: agreed that there is enough evidence to rate this gene green.
Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2

Publications

Ellen McDonagh (Genomics England Curator)

This gene was reviewed by Lara Hawkes (Cancer Clinical Team, Genomics England) and agrees this should be included on this panel.
Created: 20 Aug 2018, 1:29 p.m.
Gene and evidence provided by Adrienne Flanagan, UCL.
Created: 14 May 2018, 3:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma

Publications

History Filter Activity

11 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma to RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400; Osteosarcoma (disease), MONDO:0009807

23 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: RECQL4 was added gene: RECQL4 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 12734318; 17264332; 12612652; 28338660 Phenotypes for gene: RECQL4 were set to Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma