Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ATRX	gene	ATRX	BRIDGE consortium (NIHRBR-RD);Expert Review Amber	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Myelodysplastic syndrome (MDS), Adult;Alpha-thalassemia myelodysplasia syndrome, somatic 300448;Alpha-thalassemia/mental retardation syndrome 301040 XLD				16955409		False	2	50;50;0	1.124	False		ENSG00000085224	ENSG00000085224	HGNC:886													
BRCA1	gene	BRCA1	BRIDGE consortium (NIHRBR-RD);Expert Review Amber	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group S, OMIM:617883				25472942;28122244;26644450;25472942		False	2	100;0;0	1.124	False		ENSG00000012048	ENSG00000012048	HGNC:1100													
CBL	gene	CBL	BRIDGE consortium (NIHRBR-RD);Expert Review Amber	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	Unknown	Myelodysplastic syndrome (MDS), Paediatric;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia				19620960;20008299;20543203;19074904		False	2	100;0;0	1.124	False		ENSG00000110395	ENSG00000110395	HGNC:1541													
CEBPA	gene	CEBPA	Expert list;Expert Review Amber	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial MDS (Myelodysplastic syndromes);acute myeloid leukemia (AML)				18173751;21606161;15575056;12692518;15902292;19953636		False	2	100;0;0	1.124	False		ENSG00000245848	ENSG00000245848	HGNC:1833													
COX4I2	gene	COX4I2	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714				19268275		False	2	0;100;0	1.124	False		ENSG00000131055	ENSG00000131055	HGNC:16232													
FLT3	gene	FLT3	BRIDGE consortium (NIHRBR-RD);Expert Review Amber	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myelodysplastic syndrome (MDS), Paediatric				15390271		False	2	50;50;0	1.124	False		ENSG00000122025	ENSG00000122025	HGNC:3765													
GPI	gene	GPI	Expert Review Amber;Radboud University Medical Center, Nijmegen	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470				8417789;8499925;9856489;4076245		False	2	50;50;0	1.124	False		ENSG00000105220	ENSG00000105220	HGNC:4458													
HBD	gene	HBD	Expert Review Amber;Radboud University Medical Center, Nijmegen	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	Unknown	Thalassemia,delta;ThalassemiaduetoHbLepore						False	2	0;100;0	1.124	False		ENSG00000223609	ENSG00000223609	HGNC:4829													
HOXA11	gene	HOXA11	Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital amegkaryocytic thrombocytopenia;Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432				11101832		False	2	0;100;0	1.124	False		ENSG00000005073	ENSG00000005073	HGNC:5101													
IKZF1	gene	IKZF1	BRIDGE consortium (NIHRBR-RD);Expert Review Amber	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Acute lymphoblastic leukemia (ALL);Immunodeficiency, common variable, 13 	616873"						False	2	100;0;0	1.124	False		ENSG00000185811	ENSG00000185811	HGNC:13176													
LAT	gene	LAT	Expert Review Amber;Other	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 52, 617514				27522155; 27242165		False	2	0;0;0	1.124	False		ENSG00000213658	ENSG00000213658	HGNC:18874													
NPM1	gene	NPM1	BRIDGE consortium (NIHRBR-RD);Expert Review Amber	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	Unknown	Acute myeloid leukaemia (AML)						False	2	67;0;33	1.124	False		ENSG00000181163	ENSG00000181163	HGNC:7910													
RAD51C	gene	RAD51C	Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;UKGTN	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group O 613390				20400963;22232082		False	2	50;50;0	1.124	False		ENSG00000108384	ENSG00000108384	HGNC:9820													
RPS29	gene	RPS29	Expert list;Expert Review Amber	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Diamond-Blackfan anemia 13	615909"						False	2	50;50;0	1.124	False		ENSG00000213741	ENSG00000213741	HGNC:10419													
TERC	gene	TERC	Eligibility statement prior genetic testing;Expert list;Expert Review Amber;UKGTN	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Inherited Bone Marrow Failure Syndromes;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2;Dyskeratosis congenita;Dyskeratosis Congenita, Autosomal Dominant, 1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1						False	2	50;50;0	1.124	False		ENSG00000270141	ENSG00000270141	HGNC:11727													
TINF2	gene	TINF2	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Revesz syndrome 268130;Dyskeratosis congenita, autosomal dominant 3 613990						False	2	50;50;0	1.124	False		ENSG00000092330	ENSG00000092330	HGNC:11824													
WRAP53	gene	WRAP53	Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Cytopenias and congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 3, 613988;Dyskeratosis Congenita, Recessive;Dyskeratosis Congenita, Autosomal Recessive, 3						False	2	50;50;0	1.124	False		ENSG00000141499	ENSG00000141499	HGNC:25522