Genomics England

RECQL4

RecQ like helicase 4

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund Thomson Syndrome, 268400
Green in Cutaneous photosensitivity with a likely genetic cause R-numbers: R237 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund-Thomson syndrome, 268400
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes RAPADILINO SYNDROME 266280, BALLER-GEROLD SYNDROME 218600, ROTHMUND-THOMSON SYNDROME 268400
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Baller-Gerold syndrome, OMIM:218600, RAPADILINO syndrome, OMIM:266280, Rothmund-Thomson syndrome, type 2, OMIM:268400
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Baller-Gerold syndrome, OMIM:218600, RAPADILINO syndrome, OMIM:266280, Rothmund-Thomson syndrome, type 2, OMIM:268400
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund-Thompson syndrome, RTS2, RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund-Thomson syndrome, type 2, OMIM:268400, Combined immunodeficiency
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 218600, Baller-Gerold syndrome 218600
Green in Sarcoma susceptibility Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes, Osteosarcoma
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Baller-Gerold syndrome, OMIM:218600, RAPADILINO syndrome, OMIM:266280, Rothmund-Thomson syndrome, type 2, OMIM:268400