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
SRP72	gene	SRP72	Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria	Anaemias and red cell disorders	Haematological and immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Bone Marrow Failure, Familial;Bone marrow failure, familial, 614675;Familial Bone Marrow Failure;Familial MDS (Myelodysplastic syndromes)						False	3	0;0;0	0.14	False		ENSG00000174780	ENSG00000174780	HGNC:11303													
TERT	gene	TERT	Eligibility statement prior genetic testing;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria	Anaemias and red cell disorders	Haematological and immunological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Aplastic Anemia; {Bone marrow failure, telomere-related, 1}, 614742;{Dyskeratosis congenita, autosomal recessive 4}, 613989;{Dyskeratosis congenita, autosomal dominant 2}, 613989;{Coronary artery disease};{Pulmonary fibrosis, telomere-related, 1}, 614742;{Leukemia, acute myeloid}, 601626;{Melanoma, cutaneous malignant, 9}, 615134; Inherited Bone Marrow Failure Syndromes; Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere Related Pulmonary Fibrosis And/Or Bone Marrow Failure 1; ;Dyskeratosis congenita						False	3	0;0;0	0.14	False		ENSG00000164362	ENSG00000164362	HGNC:11730													
TINF2	gene	TINF2	Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria	Anaemias and red cell disorders	Haematological and immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Inherited Bone Marrow Failure Syndromes;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome;Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130;Revesz Syndrome;Dyskeratosis congenita						False	3	0;0;0	0.14	False		ENSG00000092330	ENSG00000092330	HGNC:11824