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 Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH	Inherited predisposition to acute myeloid leukaemia (AML)		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocytopenia 2, OMIM:188000;Acute myeloid leukemia, MONDO:0018874				23926458;30466750;27895058;27069254		False	3	50;50;0	3.5	False		ENSG00000107890	ENSG00000107890	HGNC:29186													
CEBPA	gene	CEBPA	Expert Review Green;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	?Leukemia, acute myeloid, OMIM:601626;Leukemia, acute myeloid, somatic, OMIM:601626;Acute myeloid leukemia, MONDO:0018874				15575056;23926458;30466750;27895058;27069254		False	3	60;40;0	3.5	False		ENSG00000245848	ENSG00000245848	HGNC:1833													
DDX41	gene	DDX41	Expert Review Green;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	{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, OMIM:616871;DDX41-related hematologic malignancy predisposition syndrome, MONDO:0014809				25920683;26712909;30466750;27895058;27069254		False	3	60;40;0	3.5	False		ENSG00000183258	ENSG00000183258	HGNC:18674													
ETV6	gene	ETV6	Expert Review Green;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	Leukemia, acute myeloid, somatic, OMIM:601626;Thrombocytopenia 5, OMIM:616216;Acute myeloid leukemia, MONDO:0018874				28600339;30466750;27895058;27069254		False	3	60;40;0	3.5	False		ENSG00000139083	ENSG00000139083	HGNC:3495													
GATA2	gene	GATA2	Expert Review Green;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	{Leukemia, acute myeloid, susceptibility to}, OMIM:601626;{Myelodysplastic syndrome, susceptibility to}, OMIM:614286;Emberger syndrome, OMIM:614038				23926458;28600339;30466750;27895058;27069254		False	3	60;40;0	3.5	False		ENSG00000179348	ENSG00000179348	HGNC:4171													
MBD4	gene	MBD4	Expert Review Green;Literature;NHS GMS	Inherited predisposition to acute myeloid leukaemia (AML)		Haematology	BIALLELIC, autosomal or pseudoautosomal	Tumor predisposition syndrome 2, OMIM:619975;Multi-organ tumour predisposition syndrome;Adenomatous colorectal polyposis;Colorectal cancer;Acute myeloid leukemia;Uveal melanoma				12417741;30049810;32239153;35460607		False	3	100;0;0	3.5	False		ENSG00000129071	ENSG00000129071	HGNC:6919													
RUNX1	gene	RUNX1	Expert Review Green;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	Leukemia, acute myeloid, OMIM:601626;Platelet disorder, familial, with associated myeloid malignancy, OMIM:601399				19357396;23926458;11830488;30466750;27895058;27069254		False	3	60;40;0	3.5	False		ENSG00000159216	ENSG00000159216	HGNC:10471													
SAMD9L	gene	SAMD9L	Expert Review Green	Inherited predisposition to acute myeloid leukaemia (AML)		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Monosomy 7 myelodysplasia and leukemia syndrome 1, OMIM:252270				11172908;10640152		False	3	100;0;0	3.5	False		ENSG00000177409	ENSG00000177409	HGNC:1349													
TERC	gene	TERC	Expert Review Green;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	Dyskeratosis congenita, autosomal dominant 1, OMIM:127550;{Aplastic anemia}, OMIM:614743				23926458;28600339;30466750;27895058;27069254		False	3	60;40;0	3.5	False		ENSG00000270141	ENSG00000270141	HGNC:11727													
TERT	gene	TERT	Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Inherited predisposition to acute myeloid leukaemia (AML)		Haematology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	{Leukemia, acute myeloid}, OMIM:601626;Dyskeratosis congenita, autosomal dominant 2, OMIM:613989;Dyskeratosis congenita, autosomal recessive 4, OMIM:613989;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742				23926458;28600339;30466750;27895058;27069254		False	3	60;40;0	3.5	False		ENSG00000164362	ENSG00000164362	HGNC:11730													
TP53	gene	TP53	Expert Review Green;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	Li-Fraumeni syndrome, OMIM:151623;Li-Fraumeni syndrome 1, MONDO:0007903				28600339		False	3	50;50;0	3.5	False		ENSG00000141510	ENSG00000141510	HGNC:11998													
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	3.5	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	17;83;0	3.5	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	3.5	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	3.5	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	3.5	False		ENSG00000174780	ENSG00000174780	HGNC:11303