Basal Cell Nevus Syndrome; Bcns

Clinical Features

Top most frequent phenotypes and symptoms related to Basal Cell Nevus Syndrome; Bcns

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Strabismus
  • Cleft palate

And another 113 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

Basal Cell Nevus Syndrome; Bcns Is also known as nevoid basal cell carcinoma syndrome, gorlin-goltz syndrome, gorlin syndrome, nbccs, multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies.

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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Basal Cell Nevus Syndrome; Bcns Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
12 %
Genes
50 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
12 %
Genes
50 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
50 %
VistaSeq Brain/CNS/PNS Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

SMARCB1, TP53, VHL, SUFU, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PMS2, PHOX2B, PTCH1, RB1
Specificity
12 %
Genes
50 %
Hereditary Cancer Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, SUFU, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
25 %
Hereditary Cancer Panel - Neuro17.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

TP53, TSC1, TSC2, VHL, SUFU, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PMS2, PHOX2B, PTCH1
Specificity
12 %
Genes
50 %
Hereditary Cancer Panel- Comprehensive63.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, CDC73, DICER1, CDH1 , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
50 %
BrainTumorNext.

By Ambry Genetics (United States).

SMARCA4, SMARCB1, SMARCE1, TP53, TSC1, TSC2, VHL, SUFU, DICER1, POT1, CDKN1B, CDKN2A, AIP, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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