RAD50:Ensemblv90

RAD50 double strand break repair protein
OMIM: 604040, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green RAD50 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 MONDO:0013118
Green RAD50 in Mendeliome Version 1.3802	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 MONDO:0013118
Green RAD50 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.138 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 Hypogammaglobulinaemia
Green RAD50 in Homologous_recombination_deficiency_WTS_UMCCR Level 2: Cancer Version 0.45	0 reviews	Unknown	Sources Literature Expert Review Green Tags umccr
Red RAD50 in NCGC Version 0.3	0 reviews	Other	Sources NCGC Phenotypes NA
Green RAD50 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nijmegen breakage syndrome-like disorder, 613078 (3)
Green RAD50 in Growth failure Version 1.87	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 MONDO:0013118
Green RAD50 in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 MONDO:0013118
Green RAD50 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078
Green RAD50 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 MONDO:0013118
Green RAD50 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 Hypogammaglobulinaemia
Green RAD50 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Nijmegen breakage syndrome-like disorder, 613078 (3)
Green RAD50 in Growth failure Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 MONDO:0013118
Green RAD50 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078