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;NHS GMS	Childhood solid tumours		Cancer susceptibility	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal dominant 6, OMIM:616553;Dyskeratosis congenita, autosomal recessive 7, OMIM:616553				25233904;25205116		False	2	0;100;0	5.10	False		ENSG00000102977	ENSG00000102977	HGNC:25070													
BRAF	gene	BRAF	Expert List;Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome 7 613706;Cardiofaciocutaneous syndrome 115150;LEOPARD syndrome 3 613707				23875798		False	2	33;67;0	5.10	False		ENSG00000157764	ENSG00000157764	HGNC:1097													
CTC1	gene	CTC1	Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita;Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita;Inherited Bone Marrow Failure Syndromes;Dyskeratosis Congenita, Recessive;612199 Coats plus syndrome				22387016;22899577;22267198;22532422		False	2	0;0;0	5.10	False		ENSG00000178971	ENSG00000178971	HGNC:26169													
DKC1	gene	DKC1	Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Dyskeratosis congenita, autosomal recessive 6, 616353				12522253;11379875;20587522;31027506;18005359;9888995;10364516		False	2	0;100;0	5.10	False		ENSG00000130826	ENSG00000130826	HGNC:2890													
ERCC1	gene	ERCC1	Expert List;Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	xeroderma pigmentosum, MONDO:0019600;hepatorenal syndrome, MONDO:0001382				40684071		False	2	100;0;0	5.10	False		ENSG00000012061	ENSG00000012061	HGNC:3433													
FBXW7	gene	FBXW7	Expert Review Amber;Literature	Childhood solid tumours		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Wilms tumor, MONDO:0006058;Rhabdoid tumor, MONDO:0002728				19963109;20332316;26482194;30885698		False	2	100;0;0	5.10	False		ENSG00000109670	ENSG00000109670	HGNC:16712													
LZTR1	gene	LZTR1	Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Noonan syndrome 10 616564;Schwannomatosis-2, susceptibility to 615670						False	2	0;100;0	5.10	False		ENSG00000099949	ENSG00000099949	HGNC:6742													
MAP2K1	gene	MAP2K1	Expert List;Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome;CFC syndrome;LEOPARD syndrome;Cardiofaciocutaneous syndrome 3;?Noonan syndrome				23875798		False	2	33;67;0	5.10	False		ENSG00000169032	ENSG00000169032	HGNC:6840													
MAP2K2	gene	MAP2K2	Expert List;Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cardiofaciocutaneous syndrome 4 615280				23875798		False	2	33;67;0	5.10	False		ENSG00000126934	ENSG00000126934	HGNC:6842													
NOP10	gene	NOP10	Expert List;Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 1, 224230				17507419		False	2	100;0;0	5.10	False		ENSG00000182117	ENSG00000182117	HGNC:14378													
NYNRIN	gene	NYNRIN	Expert Review Amber;Literature	Childhood solid tumours		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	Wilms tumour				30885698		False	2	0;100;0	5.10	False		ENSG00000205978	ENSG00000205978	HGNC:20165													
PARN	gene	PARN	Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 6, OMIM:616353;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371				25893599;26342108;25848748		False	2	0;0;0	5.10	False		ENSG00000140694	ENSG00000140694	HGNC:8609													
PPP1CB	gene	PPP1CB	Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Rasopathy with developmental delay, short stature and sparse slow-growing hair;Noonan syndrome-like disorder with loose anagen hair 2, 617506						False	2	0;100;0	5.10	False		ENSG00000213639	ENSG00000213639	HGNC:9282													
RAD51C	gene	RAD51C	Expert List;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Childhood solid tumours		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	 {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399;Fanconi anemia, complementation group O, 613390;Fanconi Anaemia;Fanconi Anemia				19686080		False	2	100;0;0	5.10	True		ENSG00000108384	ENSG00000108384	HGNC:9820													
RIT1	gene	RIT1	Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome 8 615355						False	2	0;100;0	5.10	False		ENSG00000143622	ENSG00000143622	HGNC:10023													
SOS2	gene	SOS2	Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome 9 616559						False	2	0;100;0	5.10	False		ENSG00000100485	ENSG00000100485	HGNC:11188													
SPRTN	gene	SPRTN	Expert Review Amber;Other	Childhood solid tumours		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	Ruijs-Aalfs syndrome, OMIM:616200;progeroid features-hepatocellular carcinoma predisposition syndrome, MONDO:0014527				12503110;25261934;25501849		False	2	0;100;0	5.10	False		ENSG00000010072	ENSG00000010072	HGNC:25356													
TINF2	gene	TINF2	Expert Review Amber;NHS GMS	Childhood solid tumours		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Dyskeratosis congenita, autosomal dominant 3, 613990						False	2	0;0;0	5.10	False		ENSG00000092330	ENSG00000092330	HGNC:11824