Gorlin Syndrome

Table of contents:

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

Description

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

Genes related to Gorlin Syndrome

SUFU
PTCH1
PTCH2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Gorlin Syndrome

Intellectual disability
Scoliosis
Hypertelorism
Neoplasm
Strabismus
Cataract
Cryptorchidism
Epicanthus
Brachydactyly
Wide nasal bridge

And another 19 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available GORLIN SYNDROME have a estimated prevalence of 1.1 per 100k in Europe.
— No data available about the known clinical features onset.

Alternative names

Gorlin Syndrome Is also known as nbccs, basal cell nevus syndrome, nevoid basal cell carcinoma syndrome, gorlin-goltz 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.

Gorlin Syndrome 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 67 %
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 67 %
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 Panel complete gene list RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, SBDS, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, ENG, FH, GATA2, ALK, GPC3, APC, SMAD4, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF2, ATM, PAX5, PMS1, PMS2, PHOX2B, PRF1, PRKAR1A, BARD1, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RET Specificity 4 % Genes 67 %
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 67 %
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 Panel complete gene list SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, SUFU, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, FH, ALK, APC, SMAD4, MAX, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF2, ATM, PMS2, PHOX2B, BAP1, BARD1, PTEN, RAD51C, RAD51D, RB1, RET Specificity 3 % Genes 34 %
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 67 %
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 Panel complete gene list BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, CDC73, DICER1, CDH1, CDKN2A, GALNT12, GREM1, BRIP1, ABRAXAS1, SDHAF2, TMEM127, PALB2, FLCN, FANCC, FH, ALK, APC, SMAD4, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, ATM, NTHL1, AXIN2, PMS2, PHOX2B, POLD1, POLE, PRKAR1A, BARD1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RET Specificity 4 % Genes 67 %
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 Panel complete gene list SMARCA4, SMARCB1, SMARCE1, TP53, TSC1, TSC2, VHL, SUFU, DICER1, POT1, CDKN1B, CDKN2A, AIP, ALK, APC, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PMS2, PHOX2B, PRKAR1A, PTCH1, PTEN Specificity 8 % Genes 67 %

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Sources and references

You can check the following sources for additional information.

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