Radial dysplasia
Gene: RECQL4Comment 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.
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
Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome, 218600; RAPILINO syndrome, 266280; Rothmund-Thomson syndrome, 268400 to Baller-Gerold syndrome, OMIM:218600; RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for RECQL4 were set to Baller-Gerold syndrome, 218600; RAPILINO syndrome, 266280; Rothmund-Thomson syndrome, 268400
This gene has been classified as Green List (High Evidence).
Phenotypes for RECQL4 were set to Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400
This gene has been classified as Green List (High Evidence).
RECQL4 was added to Radial dysplasiapanel. Sources: Expert list
Phenotypes for gene RECQL4 were set to RAPADILINO syndrome, 266280; Baller-Gerold syndrome, 218600; Rothmund-Thomson syndrome, 268400;RAPADILINO SYNDROME; BALLER-GEROLD SYNDROME; BGS;Rothmund-Thomson Syndrome; RTS; Baller-Gerold syndrome; Rapadilino syndrome
RECQL4 was added to Radial dysplasiapanel. Source: Emory Genetics Laboratory
RECQL4 was added to Radial dysplasiapanel. Source: Other Model of inheritance for gene RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
RECQL4 was created by rfoulger
RECQL4 was added to Radial dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen