Dyskeratosis Congenita, Autosomal Dominant 6; Dkca6

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 ).

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

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.


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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
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
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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