Cutaneous photosensitivity with a likely genetic cause

Gene: RECQL4

Green List (high evidence)

RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels

1 review

Rebecca Foulger (Genomics England curator)

Added RECQL4 as a Green gene to the 'Cutaneous photosensitivity with a likely genetic cause' panel, as suggested by Anna de Burca and Ellen Thomas, because the Testing Criteria uses Rothmund Thompson syndrome as an example condition for Clinical Indication R237.
Sources: Other
Created: 17 Apr 2019, 4:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rothmund-Thomson syndrome, 268400

Publications

History Filter Activity

17 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: recql4 has been classified as Green List (High Evidence).

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: RECQL4 was added gene: RECQL4 was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Other Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 10319867; 10678659; 11102924; 11471165 Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, 268400