Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: RECQL4EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 21 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)
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)
Comment on phenotypes: added phenotype from OMIMCreated: 13 Jun 2018, 9:51 a.m.
Comment on publications: Added publications suggested from external expert review to support Rothmund-Thomson syndromeCreated: 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 immunodeficiencyCreated: 17 Apr 2018, 12:29 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- ESID Registry 20171117
- Phenotypes
-
- Rothmund-Thomson syndrome, type 2, OMIM:268400
- Combined immunodeficiency
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Sarcoma of possible germline origin
- Limb disorders
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cutaneous photosensitivity with a likely genetic cause
- Bilateral congenital or childhood onset cataracts
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- DDG2P
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- Primary ovarian insufficiency
- COVID-19 research
- Pigmentary skin disorders
- Monogenic short stature
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RECQL4 were changed from Combined immunodeficiency; Rothmund-Thomson syndrome, 268400 to Rothmund-Thomson syndrome, type 2, OMIM:268400; Combined immunodeficiency
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: RECQL4.
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)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: recql4 has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: RECQL4.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: recql4 has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: RECQL4 were set to 16630167
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: recql4 has been classified as Amber List (Moderate Evidence).
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.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: recql4 has been classified as Red List (Low Evidence).
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: RECQL4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: RECQL4 were set to Combined immunodeficiency; Rothmund-Thomson syndrome, 268400
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: RECQL4 were set to 16630167
Added New Source
Louise Daugherty (Genomics England Curator)RECQL4 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117
Created
Louise Daugherty (Genomics England Curator)RECQL4 was created by Louise Daugherty