RECQL4

RecQ like helicase 4
OMIM: 603780, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green RECQL4 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rothmund-Thomson syndrome, type 2, MIM# 268400 RAPADILINO syndrome, MIM# 266280 Baller-Gerold syndrome, MIM# 218600 RECON progeroid syndrome, MIM# 620370
Green RECQL4 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Baller-Gerold syndrome, MIM# 218600
Green RECQL4 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Baller-Gerold syndrome, MIM# 218600 RAPADILINO syndrome, MIM# 266280 Rothmund-Thomson syndrome, type 2,MIM# 268400 RECON progeroid syndrome, MIM# 620370
Green RECQL4 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green RECQL4 in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Rothmund-Thomson syndrome, type 2, (MIM#268400)
Green RECQL4 in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Baller-Gerold syndrome, MIM# 218600 RAPADILINO syndrome, MIM# 266280 Rothmund-Thomson syndrome, type 2,MIM# 268400
Red RECQL4 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Baller-Gerold syndrome, MIM#218600 RAPADILINO syndrome, MIM#266280 Rothmund-Thomson syndrome, type 2,MIM#268400
Green RECQL4 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Rothmund-Thomson syndrome 268400 Baller-Gerold syndrome 218600 RAPILINO syndrome 266280
Red RECQL4 in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Rothmund-Thomson syndrome
Red RECQL4 in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Rothmund-Thomson syndrome
Red RECQL4 in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Rothmund-Thomson syndrome
Green RECQL4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Baller-Gerold syndrome, 218600 (3)
Green RECQL4 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Baller-Gerold syndrome Rothmund-Thomson syndrome Rapadilino syndrome
Green RECQL4 in Growth failure Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Rothmund-Thomson syndrome, type 2, MIM# 268400 RAPADILINO syndrome, MIM# 266280 Baller-Gerold syndrome, MIM# 218600
Green RECQL4 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Rothmund-Thomson syndrome 268400 RAPILINO syndrome 266280 Baller-Gerold syndrome 218600
Green RECQL4 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Baller-Gerold syndrome, MIM# 218600 RAPADILINO syndrome, MIM# 266280 Rothmund-Thomson syndrome, type 2,MIM#268400
Green RECQL4 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Baller-Gerold syndrome, 218600 (3)
Red RECQL4 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Rothmund-Thomson syndrome, type 2, MIM# 268400