Skeletal dysplasia
Gene: RECQL4EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Craniosynostosis syndrome gp of SD, Limb hypoplasia-reduction defects gp of SD - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RECQL4; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 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
-
- NHS GMS
- Expert Review Green
- 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
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Cutaneous photosensitivity with a likely genetic cause
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- COVID-19 research
- Limb disorders
- Skeletal dysplasia
- Monogenic short stature
- Childhood solid tumours
- Sarcoma susceptibility
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Pigmentary skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RECQL4 were changed from RAPILINO syndrome 266280; 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome 218600 for gene: RECQL4
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to RECQL4. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RECQL4 were set to Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for RECQL4 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for RECQL4 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)RECQL4 was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)RECQL4 was created by sleigh