Pigmentary skin disorders

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

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal



Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: RECQL4; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes RTS2; RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2 for gene: RECQL4 Publications for gene RECQL4 were changed from to 12952869; 10319867

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to RECQL4.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RECQL4 was added gene: RECQL4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to Rothmund-Thompson syndrome