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
ANKRD26	gene	ANKRD26	Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Early onset pancytopenia and red cell disorders	Anaemias and red cell disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Thrombocytopenia 2, 188000;Congenital amegkaryocytic thrombocytopenia						False	2	0;0;0	0.260	False		ENSG00000107890	ENSG00000107890	HGNC:29186													
CTC1	gene	CTC1	Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN	Early onset pancytopenia and red cell disorders	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita;Dyskeratosis Congenita, Recessive;Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita						False	2	0;0;0	0.260	False		ENSG00000178971	ENSG00000178971	HGNC:26169													
CYCS	gene	CYCS	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Early onset pancytopenia and red cell disorders	Anaemias and red cell disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Thrombocytopenia 4, 612004						False	2	0;0;0	0.260	False		ENSG00000172115	ENSG00000172115	HGNC:19986													
ELANE	gene	ELANE	Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Early onset pancytopenia and red cell disorders	Anaemias and red cell disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Severe congenital neutropenic;Neutropenia, Severe Congenital, 1 Autosomal Dominant; Cyclic Neutropenia;Neutropenia, cyclic, 162800Neutropenia, severe congenital 1, autosomal dominant, 202700						False	2	0;0;0	0.260	False		ENSG00000197561	ENSG00000197561	HGNC:3309													
ERCC4	gene	ERCC4	Radboud University Medical Center, Nijmegen;UKGTN	Early onset pancytopenia and red cell disorders	Anaemias and red cell disorders	Haematological disorders		Xeroderma pigmentosum, group F, 278760; XFE progeroid syndrome, 610965; Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760;Fanconi Anaemia						False	2	0;0;0	0.260	False		ENSG00000175595	ENSG00000175595	HGNC:3436													
GATA1	gene	GATA1	Eligibility statement prior genetic testing;Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Early onset pancytopenia and red cell disorders	Anaemias and red cell disorders	Haematological disorders	X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367;Congenital Dyserythropoietic Anemia;Familial MDS (Myelodysplastic syndromes);Anemia, X-linked, with/without neutropenia and/or platelet abnormalities						False	2	0;0;0	0.260	False		ENSG00000102145	ENSG00000102145	HGNC:4170													
MASTL	gene	MASTL	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Early onset pancytopenia and red cell disorders	Anaemias and red cell disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Thrombocytopenia						False	2	0;0;0	0.260	False		ENSG00000120539	ENSG00000120539	HGNC:19042													
RBM8A	gene	RBM8A	Radboud University Medical Center, Nijmegen;UKGTN	Early onset pancytopenia and red cell disorders	Anaemias and red cell disorders	Haematological disorders		Thrombocytopenia Absent-Radius Syndrome						False	2	0;0;0	0.260	False		ENSG00000131795	ENSG00000265241	HGNC:9905													
RPS17	gene	RPS17	Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Early onset pancytopenia and red cell disorders	Anaemias and red cell disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Diamond Blackfan anemia;Diamond-Blackfan anemia 4, 612527;Diamond_Blackfan Anemia 4;DIAMOND-BLACKFAN ANEMIA 4						False	2	0;0;0	0.260	False		ENSG00000182774	ENSG00000182774	HGNC:10397													
RTEL1	gene	RTEL1	Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Early onset pancytopenia and red cell disorders	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 5, 615190; Dyskeratosis congenita, autosomal dominant 4, 615190;Dyskeratosis Congenita, Autosomal Dominant, 4;Dyskeratosis Congenita, Autosomal Recessive, 5						False	2	0;0;0	0.260	False		ENSG00000258366	ENSG00000258366	HGNC:15888													
SBDS	gene	SBDS	Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Early onset pancytopenia and red cell disorders	Anaemias and red cell disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Shwachman Diamond syndrome (SDS) ;Shwachman-Bodian-Diamond syndrome, 260400;Shwachman-Diamond Syndrome;SHWACHMAN-DIAMOND SYNDROME						False	2	0;0;0	0.260	False		ENSG00000126524	ENSG00000126524	HGNC:19440													
WAS	gene	WAS	Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Early onset pancytopenia and red cell disorders	Anaemias and red cell disorders	Haematological disorders	X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females	Wiskott-Aldrich syndrome, 301000Thrombocytopenia, X-linked, 313900Neutropenia, severe congenital, X-linked, 300299Thrombocytopenia, X-linked, intermittent, 313900;Wiskot Aldrich syndrome;Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900;Neutropenia, severe congenital, X-linked, 300299;Thrombocytopenia, X-linked, intermittent, 313900;Neutropenia, Severe Congenital, X-Linked;Thrombocytopenia 1;Wiskott-Aldrich Syndrome						False	2	0;0;0	0.260	False		ENSG00000015285	ENSG00000015285	HGNC:12731