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Primary immunodeficiency

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

4 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:39 p.m. | Last Modified: 20 Oct 2020, 3:39 p.m.
Panel Version: 2.357

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 3 unrelated cases in which immunodeficiecy was a feature (PMID 16630167; 21143835; 26064716). In addition RECQL4 variants have been implicated in Acrodermatitis Enteropathica caused by SLC39A4 (p.Gly512Trp)(PMID 30174688)
Created: 16 Apr 2020, 1:24 p.m. | Last Modified: 16 Apr 2020, 1:24 p.m.
Panel Version: 2.87

Sophie Hambleton (Newcastle University)

I don't know

Strong evidence that biallelic loss of function in this gene causes Rothmund-Thomson syndrome but poor evidence that combined immunodeficiency is part of this phenotype (single case report)
Created: 11 Jun 2018, 1:02 p.m.

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on phenotypes: added phenotype from OMIM
Created: 13 Jun 2018, 9:51 a.m.
Comment on publications: Added publications suggested from external expert review to support Rothmund-Thomson syndrome
Created: 13 Jun 2018, 9:49 a.m.
External expert review notes Amber status, however the evidence that biallelic loss of function in this gene causes Rothmund-Thomson syndrome it is noted that there is poor evidence for immunodeficiency part of Rothmund-Thomson syndrome phenotype , so I have decided to keep this gene Red on this panel.
Created: 13 Jun 2018, 9:48 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: RECQL4 (Poikilodermia congenita), PanelApp HGNC gene symbol check: RECQL4, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency
Created: 17 Apr 2018, 12:29 p.m.

History Filter Activity

4 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: RECQL4.

4 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to RECQL4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: recql4 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: RECQL4.

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: recql4 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RECQL4 were set to 16630167

16 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: recql4 has been classified as Amber List (Moderate Evidence).

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

13 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: recql4 has been classified as Red List (Low Evidence).

13 Jun 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: RECQL4 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 Jun 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RECQL4 were set to Combined immunodeficiency; Rothmund-Thomson syndrome, 268400

13 Jun 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RECQL4 were set to 16630167

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

RECQL4 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

RECQL4 was created by Louise Daugherty