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Primary immunodeficiency

Gene: RECQL4

Amber List (moderate 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)

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

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