Melanoma, Cutaneous Malignant, Susceptibility To, 9; Cmm9

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of malignant melanoma, see {155600}.

Genes related to Melanoma, Cutaneous Malignant, Susceptibility To, 9; Cmm9

TERT

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Clinical Features

Phenotypes and symptoms related to Melanoma, Cutaneous Malignant, Susceptibility To, 9; Cmm9

Neoplasm
Carcinoma
Melanoma
Ovarian neoplasm
Renal cell carcinoma
Bladder neoplasm

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Melanoma, Cutaneous Malignant, Susceptibility To, 9; Cmm9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...) View the complete list with 73 more genes Panel complete gene list RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, RSPH1, CFAP298, CAV1, HPS3, HPS4, RTEL1, NME8, LRRC6, HPS5, DTNBP1, ACVRL1, INVS, CENPF, CCNO, DNAI2, HPS6, CFTR, DOCK8, ZMYND10, DNAAF2, BLOC1S3, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CSF2RA, CSF2RB, CCDC39, TTC25, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, FLCN, ELMOD2, CCDC151, DKC1, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, DNAJB13, EDN3, EFEMP2, CCDC103, ABCA3, ELN, ENG, FBLN5, FOXF1, MCIDAS, GAS8, GDF2, ALMS1, HPS1, AP3B1, KCNA5, KCNK3, LTBP4, SMAD4, SMAD9, MUC5B, BLOC1S6, PARN, SERPINA1, PHOX2B Specificity 2 % Genes 100 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2, NKX2-1, HPS3, HPS4, RTEL1, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, DKC1, ABCA3 , (...) View the complete list with 5 more genes Panel complete gene list SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2, NKX2-1, HPS3, HPS4, RTEL1, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, DKC1, ABCA3, HPS1, AP3B1, MUC5B, BLOC1S6, PARN Specificity 4 % Genes 100 %
Diffuse Lung Disease NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States). SFTPA2, SFTPB, SFTPC, SLC7A7, TERC, TERT, TINF2, NKX2-1, HPS4, CSF2RA, CSF2RB, DKC1, ABCA3, FOXF1, HPS1, AP3B1 Specificity 7 % Genes 100 %
Telomere Shortening Disorders Spectrum NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States). TERC, TERT, TINF2, NHP2, NOP10, WRAP53, CTC1, DKC1 Specificity 13 % Genes 100 %
Idiopathic Pulmonary Fibrosis NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States). SFTPA2, SFTPC, TERC, TERT, TINF2, NKX2-1, HPS4, DKC1, ABCA3, HPS1, AP3B1 Specificity 10 % Genes 100 %
Bone Marrow Failure. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS , (...) View the complete list with 23 more genes Panel complete gene list RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS, BRIP1, FANCL, FANCM, SLX4, WRAP53, FANCI, USB1, PALB2, CTC1, DKC1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, GATA1, MPL, NBN, PRF1, RAD51C Specificity 3 % Genes 100 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...) View the complete list with 40 more genes Panel complete gene list RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10, VPS45, RTEL1, HAX1, SBDS, LYST, BRIP1, FANCL, VPS13B, FANCM, SLX4, CSF3R, G6PC3, WRAP53, FANCI, CXCR4, USB1, PALB2, DKC1, LAMTOR2, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, SLC37A4, GATA1, GATA2, GFI1, AP3B1, MPL, RAB27A, RAC2, RAD51C, RBM8A Specificity 2 % Genes 100 %
Dyskeratosis Congenita panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). TERC, TERT, TINF2, NHP2, NOP10, RTEL1, WRAP53, DKC1 Specificity 13 % Genes 100 %

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Sources and references

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