Growth failure in early childhood
Gene: RECQL4EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to this panel by Melissa Connolly. RECQL4 is associated with multiple phenotypes, one of which is Rothmund-Thomson syndrome which can present with short stature. Review of case reports in the literature did not clearly indicate the level of severity, although 'small size' for height and weight is often mentioned. Patients have been followed up specifically for short stature, indicating that this panel is a plausible route for referral.
This, considered alongside the Green rating that has been allocated to the other Rothmund-Thomson syndrome gene (ANAPC1) as highlighted by Melissa Connolly, supports the promotion of RECQL4 to Green status at the next GMS panel update.Created: 26 Mar 2024, 2:36 p.m. | Last Modified: 26 Mar 2024, 2:36 p.m.
Panel Version: 3.10
Melissa Connolly (WMRGL GLH)
ANAPC1 was added to the R147.1 panel for Rothmund-Thomson syndrome but RECQL4, which is a more common cause of the this disorder was not. From gene reviews this gene causes 60% of RTS cases vs. ANAPC1 causing 10%. To complete the screening for RTS in short stature patients, this gene should be added to the panel
Sources: LiteratureCreated: 21 Mar 2024, 5:32 p.m. | Last Modified: 21 Mar 2024, 5:34 p.m.
Panel Version: 3.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature; frontal bossing; prognathism; juvenile cataracts
Publications
- PMID: 38021400
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Rothmund-Thomson syndrome, type 2, OMIM:268400
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Cutaneous photosensitivity with a likely genetic cause
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Limb disorders
- DDG2P
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_promote_green was removed from gene: RECQL4. Tag Q1_24_NHS_review was removed from gene: RECQL4.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: RECQL4 were set to PMID: 38021400
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_24_promote_green tag was added to gene: RECQL4. Tag Q1_24_NHS_review tag was added to gene: RECQL4.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: recql4 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RECQL4 were changed from Short stature; frontal bossing; prognathism; juvenile cataracts to Rothmund-Thomson syndrome, type 2, OMIM:268400
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Melissa Connolly (WMRGL GLH)gene: RECQL4 was added gene: RECQL4 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to PMID: 38021400 Phenotypes for gene: RECQL4 were set to Short stature; frontal bossing; prognathism; juvenile cataracts Penetrance for gene: RECQL4 were set to Complete Review for gene: RECQL4 was set to GREEN