Dyskeratosis Congenita, Autosomal Dominant 6; Dkca6

Table of contents:

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

Description

Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Genes related to Dyskeratosis Congenita, Autosomal Dominant 6; Dkca6

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Clinical Features

Top most frequent phenotypes and symptoms related to Dyskeratosis Congenita, Autosomal Dominant 6; Dkca6

Global developmental delay
Microcephaly
Growth delay
Neoplasm
Anemia
Intrauterine growth retardation
Abnormality of the dentition
Cerebellar hypoplasia
Carcinoma
Nail dystrophy

And another 7 symptoms. If you need more information about this disease we can help you.

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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.

Dyskeratosis Congenita, Autosomal Dominant 6; Dkca6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ACD Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). ACD Specificity 100 % Genes 100 %
Tier 1: Hereditary Lymphoma and Immunodeficiency Panel. By Genetic Services Laboratory University of Chicago (United States). TP53, POT1, TERF2IP, ACD, KLHDC8B, MLH1, MSH2, MSH6, NPAT, PMS2 Specificity 10 % Genes 100 %
Inherited Bone Marrow Failure Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...) View the complete list with 41 more genes Panel complete gene list RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L, NHP2, NOP10, VPS45, RTEL1, HAX1, POT1, SBDS, BRIP1, FANCL, SBF2, FANCM, SLX4, CSF3R, G6PC3, ACD, NAF1, WRAP53, FANCI, CXCR4, USB1, PALB2, CTC1, DNAJC21, DKC1, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, ALAS2, GATA1, GATA2, GFI1, MPL, PARN, RAD51C, RBM8A Specificity 2 % Genes 100 %
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel. By Genetic Services Laboratory University of Chicago (United States). TERC, TERT, TINF2, NHP2, NOP10, RTEL1, POT1, ACD, NAF1, WRAP53, USB1, CTC1, DKC1, PARN Specificity 8 % Genes 100 %
Hereditary Melanoma Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). BRCA1, BRCA2, TP53, WRN, POT1, CDK4, CDKN2A, ACD, MC1R, POLE, BAP1 Specificity 10 % Genes 100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel. By Genetic Services Laboratory University of Chicago (United States). RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS , (...) View the complete list with 58 more genes Panel complete gene list RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS, IKZF1, SAMD9, SAMD9L, NHP2, NOP10, VPS45, CBL, RTEL1, HAX1, POT1, CEBPA, SBDS, BRIP1, FANCL, SBF2, SLX4, CSF3R, G6PC3, UBE2T, ACD, NAF1, WRAP53, FANCI, CXCR4, USB1, PALB2, CTC1, DNAJC21, DKC1, ANKRD26, ELANE, ERCC4, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, ALAS2, GATA1, GATA2, GFI1, MLH1, MPL, MSH2, MSH6, NBN, NF1, ATM, PARN, PAX5, PMS2, PTPN11, RAD51, RAD51C, RBM8A Specificity 2 % Genes 100 %
Dyskeratosis congenita NGS panel. By Connective Tissue Gene Tests (United States). TERC, TERT, TINF2, NHP2, NOP10, RTEL1, ACD, WRAP53, USB1, CTC1, DKC1, PARN Specificity 9 % Genes 100 %
Dyskeratosis congenita Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). TERC, TERT, TINF2, NHP2, NOP10, RTEL1, ACD, WRAP53, USB1, CTC1, DKC1, PARN Specificity 9 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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