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 Adult solid tumours cancer susceptibility 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 2.35 False ENSG00000102977 ENSG00000102977 HGNC:25070 AIP gene AIP Expert Review Amber;Literature;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary adenoma 1, multiple types 102200 17360484 False 2 0;0;0 2.35 False ENSG00000110711 ENSG00000110711 HGNC:358 BRAF gene BRAF Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 115150;Noonan syndrome 7 613706;LEOPARD syndrome 3 613707 23875798 False 2 0;100;0 2.35 False ENSG00000157764 ENSG00000157764 HGNC:1097 CHEK2 gene CHEK2 Expert list;Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Breast cancer False 2 100;0;0 2.35 False ENSG00000183765 ENSG00000183765 HGNC:16627 CTC1 gene CTC1 Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility 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 False 2 0;0;0 2.35 False ENSG00000178971 ENSG00000178971 HGNC:26169 DKC1 gene DKC1 Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, autosomal recessive 6, 616353 False 2 0;100;0 2.35 False ENSG00000130826 ENSG00000130826 HGNC:2890 EXT1 gene EXT1 Expert Review Amber;NHS GMS;Other Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chondrosarcoma 215300 29529714;10441575;23770606 False 2 0;0;0 2.35 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Amber;NHS GMS;Other Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 2 27636706;29529714;23770606;7726168 False 2 0;0;0 2.35 False ENSG00000151348 ENSG00000151348 HGNC:3513 LZTR1 gene LZTR1 Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal Noonan syndrome 10 616564;Schwannomatosis-2, susceptibility to 615670 False 2 0;100;0 2.35 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility 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 0;100;0 2.35 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 4 615280 23875798 False 2 0;100;0 2.35 False ENSG00000126934 ENSG00000126934 HGNC:6842 PARN gene PARN Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility 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 False 2 0;0;0 2.35 False ENSG00000140694 ENSG00000140694 HGNC:8609 PPP1CB gene PPP1CB Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility 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 2.35 False ENSG00000213639 ENSG00000213639 HGNC:9282 RIT1 gene RIT1 Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 8 615355 False 2 0;100;0 2.35 False ENSG00000143622 ENSG00000143622 HGNC:10023 SLX4 gene SLX4 Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P, 613951 False 2 0;0;0 2.35 False ENSG00000188827 ENSG00000188827 HGNC:23845 SOS2 gene SOS2 Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9 616559 False 2 0;100;0 2.35 False ENSG00000100485 ENSG00000100485 HGNC:11188 TINF2 gene TINF2 Expert Review Amber;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 3, 613990 False 2 0;0;0 2.35 False ENSG00000092330 ENSG00000092330 HGNC:11824