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
ABCB7	gene	ABCB7	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital anaemias	Anaemias and red cell disorders	Haematological disorders	X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females	Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia, 301310						False	2	0;0;0	0.99	False		ENSG00000131269	ENSG00000131269	HGNC:48													
BAAT	gene	BAAT	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Hypercholanemia, familial, 607748;Hypercholanemia						False	2	0;0;0	0.99	False		ENSG00000136881	ENSG00000136881	HGNC:932													
COX4I2	gene	COX4I2	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	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						False	2	0;0;0	0.99	False		ENSG00000131055	ENSG00000131055	HGNC:16232													
CUBN	gene	CUBN	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Megaloblastic anemia-1, Finnish type, 261100;Megaloblastic Anemia						False	2	0;0;0	0.99	False		ENSG00000107611	ENSG00000107611	HGNC:2548													
ERCC4	gene	ERCC4	Radboud University Medical Center, Nijmegen;UKGTN	Congenital anaemias	Anaemias and red cell disorders	Haematological disorders		Fanconi anemia, complementation group Q, 615272Xeroderma pigmentosum, type F/Cockayne syndrome, 278760						False	2	0;0;0	0.99	False		ENSG00000175595	ENSG00000175595	HGNC:3436													
GATA1	gene	GATA1	Eligibility statement prior genetic testing;Radboud University Medical Center, Nijmegen;UKGTN	Congenital anaemias	Anaemias and red cell disorders	Haematological disorders		Thrombocytopenia,X linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta thalassemia,X linked,314050Anemia,X linked,with/withoutneutropeniaand/orplateletabnormalities,300835;Congenital Dyserythropoietic Anemia;Thrombocytopenia,X linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta thalassemia,X linked,314050Anemia,X linked,with/withoutneutropeniaand/orplateletabnormalities,300835						False	2	0;0;0	0.99	False		ENSG00000102145	ENSG00000102145	HGNC:4170													
PUS1	gene	PUS1	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Myopathy, Lactic Acidosis, and Sideroblastic Anemia;Mitochondrialmyopathyandsideroblasticanemia1,600462						False	2	0;0;0	0.99	False		ENSG00000177192	ENSG00000177192	HGNC:15508													
RPS17	gene	RPS17	Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Congenital anaemias	Anaemias and red cell disorders	Haematological disorders		Diamond-Blackfan anemia 4, 612527;Diamond Blackfan anemia						False	2	0;0;0	0.99	False		ENSG00000182774	ENSG00000182774	HGNC:10397													
SLC11A2	gene	SLC11A2	Illumina TruGenome Clinical Sequencing Services;UKGTN	Congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Hypochromic Microcytic Anemia with Iron Overload						False	2	0;0;0	0.99	False		ENSG00000110911	ENSG00000110911	HGNC:10908													
SLC19A2	gene	SLC19A2	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Thiamine-Responsive Megaloblastic Anemia;Thiamine responsivemegaloblasticanemiasyndrome,249270;Thiamine responsivemegaloblasticanemiasyndrome,249270						False	2	0;0;0	0.99	False		ENSG00000117479	ENSG00000117479	HGNC:10938													
TERT	gene	TERT	Illumina TruGenome Clinical Sequencing Services;UKGTN	Congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Aplastic Anemia						False	2	0;0;0	0.99	False		ENSG00000164362	ENSG00000164362	HGNC:11730													
YARS2	gene	YARS2	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital anaemias	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Myopathy,lacticacidosis,andsideroblasticanemia2,613561						False	2	0;0;0	0.99	False		ENSG00000139131	ENSG00000139131	HGNC:24249