Limb disordersGene: RECQL4
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.
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.
Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 2
Added phenotypes Rothmund-Thomson syndrome, 268400; RAPILINO syndrome, 266280; Baller-Gerold syndrome, 218600 for gene: RECQL4
Expert Review Green was added to RECQL4. Panel: Limb disorders Model of inheritance for gene RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
London South East RGC GSTT was added to RECQL4. Panel: Limb disorders
RECQL4 was added to Limb disorders panel. Sources: Viapath
RECQL4 was created by Ellen McDonagh