Limb disorders
Gene: RECQL4EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels
3 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Appropriate phenotype and across the reported phenotypes, clearly sufficient numbers of cases for causation.Created: 11 May 2017, 10:29 a.m.
Comment on phenotypes: Each of these phenotypes have been reported with radial ray anomalies and biallelic mutations in RECQL4.Created: 11 May 2017, 10:28 a.m.
Sarah Leigh (Genomics England Curator)
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:08 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Baller-Gerold syndrome, OMIM:218600
- RAPADILINO syndrome, OMIM:266280
- Rothmund-Thomson syndrome, type 2, OMIM:268400
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Intellectual disability
- Cutaneous photosensitivity with a likely genetic cause
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Limb disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; RAPILINO syndrome, 266280; Rothmund-Thomson syndrome, 268400; Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome, 218600 to Baller-Gerold syndrome, OMIM:218600; RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 2
Set Phenotypes
Sarah Leigh (Genomics England Curator)Added phenotypes Rothmund-Thomson syndrome, 268400; RAPILINO syndrome, 266280; Baller-Gerold syndrome, 218600 for gene: RECQL4
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to RECQL4. Panel: Limb disorders Model of inheritance for gene RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to RECQL4. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)RECQL4 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)RECQL4 was created by Ellen McDonagh