Radial dysplasia
Gene: RECQL4EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 21 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
- Expert list
- Emory Genetics Laboratory
- Other
- Radboud University Medical Center, Nijmegen
- 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
- Complete
- Panels with this gene
-
- DDG2P
- Sarcoma of possible germline origin
- Limb disorders
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- 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
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- Primary ovarian insufficiency
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Pigmentary skin disorders
- Monogenic short stature
- Childhood solid tumours
- Sarcoma susceptibility
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome, 218600; RAPILINO syndrome, 266280; Rothmund-Thomson syndrome, 268400 to Baller-Gerold syndrome, OMIM:218600; RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for RECQL4 were set to Baller-Gerold syndrome, 218600; RAPILINO syndrome, 266280; Rothmund-Thomson syndrome, 268400
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for RECQL4 were set to Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Rebecca Foulger (Genomics England curator)RECQL4 was added to Radial dysplasiapanel. Sources: Expert list
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene RECQL4 were set to RAPADILINO syndrome, 266280; Baller-Gerold syndrome, 218600; Rothmund-Thomson syndrome, 268400;RAPADILINO SYNDROME; BALLER-GEROLD SYNDROME; BGS;Rothmund-Thomson Syndrome; RTS; Baller-Gerold syndrome; Rapadilino syndrome
Added New Source
Rebecca Foulger (Genomics England curator)RECQL4 was added to Radial dysplasiapanel. Source: Emory Genetics Laboratory
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)RECQL4 was added to Radial dysplasiapanel. Source: Other Model of inheritance for gene RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Created
Rebecca Foulger (Genomics England curator)RECQL4 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)RECQL4 was added to Radial dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen