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
SBDS	gene	SBDS	Eligibility statement prior genetic testing;Expert list;Radboud University Medical Center, Nijmegen;UKGTN	Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria	Anaemias and red cell disorders	Haematological and immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Shwachman_Diamond Syndrome;Shwachman-Bodian-Diamond syndrome;Shwachman Diamond syndrome (SDS) 						False	2	0;0;0	0.14	False		ENSG00000126524	ENSG00000126524	HGNC:19440													
