Treacher Collins Syndrome 1; Tcs1

Description

Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.

Clinical Features

Top most frequent phenotypes and symptoms related to Treacher Collins Syndrome 1; Tcs1

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Cleft palate
  • Cataract
  • Cryptorchidism

And another 48 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.

Alternative names

Treacher Collins Syndrome 1; Tcs1 Is also known as mfd1, tcs, treacher collins syndrome, tcof, mandibulofacial dysostosis, treacher collins-franceschetti syndrome.

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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Treacher Collins Syndrome 1; Tcs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
Treacher Collins Syndrome NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

TCOF1, POLR1C, POLR1D
Specificity
34 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Facial Dysostosis Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SF3B4, TCOF1, ALX1, EVC2, POLR1C, POLR1D, CHD7, DHODH, ZSWIM6, EFTUD2, EFNB1, EVC, ALX3, ALX4, MYCN, PDE4D, PRKAR1A
Specificity
6 %
Genes
100 %
TCOF1 Gene Sequencing.

By GeneDx (United States).

TCOF1
Specificity
100 %
Genes
100 %
TCOF1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TCOF1
Specificity
100 %
Genes
100 %
TCOF1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TCOF1
Specificity
100 %
Genes
100 %

We have 46 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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