Growth failure in early childhood
Gene: RECQL4Comment 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
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
Publications for gene: RECQL4 were set to PMID: 38021400
Tag Q1_24_promote_green tag was added to gene: RECQL4. Tag Q1_24_NHS_review tag was added to gene: RECQL4.
Gene: recql4 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RECQL4 were changed from Short stature; frontal bossing; prognathism; juvenile cataracts to Rothmund-Thomson syndrome, type 2, OMIM:268400
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