RECQL4

RecQ like helicase 4
OMIM: 603780
PanelMode of inheritanceDetails
10 panels
R-numbers: R100
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
218600, Baller-Gerold syndrome 218600
R-numbers: R237
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thomson syndrome, 268400
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RAPADILINO SYNDROME 266280, BALLER-GEROLD SYNDROME 218600, ROTHMUND-THOMSON SYNDROME 268400
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, BALLER-GEROLD SYNDROME
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Baller-Gerold syndrome 218600, RAPILINO syndrome 266280, RAPILINO syndrome, 266280, Rothmund-Thomson syndrome, 268400, Rothmund-Thomson syndrome 268400, Baller-Gerold syndrome, 218600
R-numbers: R236
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thompson syndrome, RTS2, RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined immunodeficiency, Rothmund-Thomson syndrome, 268400
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes, Osteosarcoma
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RAPILINO syndrome 266280, Rothmund-Thomson syndrome 268400, Baller-Gerold syndrome 218600
R-numbers: R359
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund Thomson Syndrome, 268400