Cutaneous photosensitivity with a likely genetic cause
Gene: RECQL4EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 21 panels
1 review
Rebecca Foulger (Genomics England curator)
Added RECQL4 as a Green gene to the 'Cutaneous photosensitivity with a likely genetic cause' panel, as suggested by Anna de Burca and Ellen Thomas, because the Testing Criteria uses Rothmund Thompson syndrome as an example condition for Clinical Indication R237.
Sources: OtherCreated: 17 Apr 2019, 4:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thomson syndrome, 268400
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Rothmund-Thomson syndrome, type 2, OMIM:268400
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- None
- Publications
- 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 Rothmund-Thomson syndrome, 268400 to Rothmund-Thomson syndrome, type 2, OMIM:268400
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: recql4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: RECQL4 was added gene: RECQL4 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Other Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 10319867; 10678659; 11102924; 11471165 Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, 268400