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DDG2P

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)

I don't know

Original DDG2P rating: confirmed (for all listed disorders).
Created: 19 Nov 2018, 11:30 a.m.

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes BALLER-GEROLD SYNDROME 218600 for gene: RECQL4 Publications for gene RECQL4 were changed from 10319867; 9878247; 20503338; 12838562; 12734318; 10678659 to 11754069; 15964893; 9934984

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes ROTHMUND-THOMSON SYNDROME 268400 for gene: RECQL4 Publications for gene RECQL4 were changed from 12952869 to 10319867; 9878247; 20503338; 12838562; 12734318; 10678659

19 Nov 2018, Gel status: 4

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 DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 12952869 Phenotypes for gene: RECQL4 were set to RAPADILINO SYNDROME 266280