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
ACD	gene	ACD	Expert Review Amber;Research	Inherited predisposition to acute myeloid leukaemia (AML)		Haematology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553;?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553				25233904		False	2	0;100;0	3.7	False		ENSG00000102977	ENSG00000102977	HGNC:25070													
CHEK2	gene	CHEK2	Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Inherited predisposition to acute myeloid leukaemia (AML)		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	609265 Li-Fraumeni syndrome;609265 (OMIM phenotype description ID)				29902706		False	2	29;71;0	3.7	False		ENSG00000183765	ENSG00000183765	HGNC:16627													
RTEL1	gene	RTEL1	Expert Review Amber;Literature;Research	Inherited predisposition to acute myeloid leukaemia (AML)		Haematology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal dominant 4, OMIM:615190;Dyskeratosis congenita, autosomal recessive 5, OMIM:615190				PMID: 30466750;PMID:  29146883		False	2	100;0;0	3.7	False		ENSG00000258366	ENSG00000258366	HGNC:15888													
SAMD9	gene	SAMD9	Expert Review Amber;Literature;Research	Inherited predisposition to acute myeloid leukaemia (AML)		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Monosomy 7 myelodysplasia and leukemia syndrome 2, OMIM:619041				28487541;29146883;30046003;30466750		False	2	100;0;0	3.7	False	Other	ENSG00000205413	ENSG00000205413	HGNC:1348													
SRP72	gene	SRP72	Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Inherited predisposition to acute myeloid leukaemia (AML)		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	602122 (OMIN gene description ID);602122 Bone marrow failure syndrome 1				23926458;26917736;28600339;29146883;30466750		False	2	40;60;0	3.7	False		ENSG00000174780	ENSG00000174780	HGNC:11303