Radial dysplasia

Gene: RECQL4

Green List (high evidence)

RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 17 panels

3 reviews

Helen Brittain (Genomics England Curator)

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.

Sarah Leigh (Genomics England Curator)

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.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 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

Details

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for RECQL4 were set to Baller-Gerold syndrome, 218600; RAPILINO syndrome, 266280; Rothmund-Thomson syndrome, 268400

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for RECQL4 were set to Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Dec 2016, Gel status: 2

Upload gene information

Rebecca Foulger (Genomics England curator)

RECQL4 was added to Radial dysplasiapanel. Sources: Expert list

13 Oct 2016, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

13 Oct 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

RECQL4 was added to Radial dysplasiapanel. Source: Emory Genetics Laboratory

13 Oct 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

RECQL4 was added to Radial dysplasiapanel. Source: Other Model of inheritance for gene RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal

13 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

RECQL4 was created by rfoulger

13 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

RECQL4 was added to Radial dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen