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
ACKR1	gene	ACKR1	Expert Review;Expert Review Amber	IBMDx study			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"[Blood group, Duffy system]	110700;Duffy null susceptibility allele"						False	2	0;100;0	0.33	True		ENSG00000213088	ENSG00000213088	HGNC:4035													
FANCM	gene	FANCM	Expert Review Amber;IBMDx Study;Victorian Clinical Genetics Services	IBMDx study			BIALLELIC, autosomal or pseudoautosomal	FA-like syndromes, chemotherapy toxicity				8837162;28837157;34793962;31942822;19423727;19561169;25010009		False	2	0;50;50	0.33	True		ENSG00000187790	ENSG00000187790	HGNC:23168													
RPL26	gene	RPL26	Expert list;Expert Review Amber;IBMDx Study	IBMDx study			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 11, MIM# 614900				22431104		False	2	0;50;50	0.33	True		ENSG00000161970	ENSG00000161970	HGNC:10327													
RPL27	gene	RPL27	Expert Review Amber;IBMDx Study;Victorian Clinical Genetics Services	IBMDx study			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 16, MIM# 617408				25424902		False	2	0;50;50	0.33	True		ENSG00000131469	ENSG00000131469	HGNC:10328