Childhood solid tumours
Gene: RECQL4EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 21 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund Thomson Syndrome
Richard Scott (Genomics England Curator)
Comment on list classification: Elevated risk of tumours in childhood including sarcomaCreated: 7 Mar 2016, 11:50 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Phenotypes
-
- Rothmund-Thomson syndrome, type 2, OMIM:268400
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Sarcoma of possible germline origin
- Limb disorders
- 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
- Fetal anomalies
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- Primary ovarian insufficiency
- COVID-19 research
- Pigmentary skin disorders
- Monogenic short stature
- Sarcoma susceptibility
- Childhood solid tumours
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RECQL4 were changed from Rothmund Thomson Syndrome; 268400 to Rothmund-Thomson syndrome, type 2, OMIM:268400
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RECQL4. Added phenotypes Rothmund Thomson Syndrome for gene: RECQL4 Publications for gene RECQL4 were changed from 11471165 to 20503338
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to RECQL4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Richard Scott (North Thames GMC/UCL)RECQL4 was created by Reviewer_03
Added New Source
Richard Scott (North Thames GMC/UCL)RECQL4 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list