Coffin-siris Syndrome 5; Css5

Table of contents:

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

Description

Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Genes related to Coffin-siris Syndrome 5; Css5

SMARCE1

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Clinical Features

Top most frequent phenotypes and symptoms related to Coffin-siris Syndrome 5; Css5

Intellectual disability
Seizures
Global developmental delay
Short stature
Microcephaly
Abnormal facial shape
Ptosis
Feeding difficulties
Depressed nasal bridge
Intrauterine growth retardation

And another 27 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.

Coffin-siris Syndrome 5; Css5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Coffin-Siris Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, BTD, HDAC8, ADNP, ARID2, ARID1B, PHF6, ANKRD11, SMC3, PIGV, NIPBL, TBC1D24, HELLS, KMT2D , (...) View the complete list with 1 more genes Panel complete gene list SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, BTD, HDAC8, ADNP, ARID2, ARID1B, PHF6, ANKRD11, SMC3, PIGV, NIPBL, TBC1D24, HELLS, KMT2D, RAD21 Specificity 5 % Genes 100 %
Cornelia de Lange Syndrome PLUS Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300 , (...) View the complete list with 1 more genes Panel complete gene list ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300, RAD21 Specificity 5 % Genes 100 %
Coffin-Siris syndrome Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24 Specificity 10 % Genes 100 %
Coffin-Siris syndrome Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24 Specificity 10 % Genes 100 %
Cornelia de Lange PLUS Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24 , (...) View the complete list with 2 more genes Panel complete gene list ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300, RAD21 Specificity 5 % Genes 100 %
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 4 % Genes 100 %
CancerNext-Expanded. By Ambry Genetics (United States). BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, DICER1 , (...) View the complete list with 43 more genes Panel complete gene list BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, DICER1, POT1, CDH1, CDK4, CDKN1B, CDKN2A, GALNT12, GREM1, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, FANCC, FH, HOXB13, SMAD4, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, NF2, ATM, PMS2, PHOX2B, POLD1, POLE, PRKAR1A, BAP1, BARD1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET Specificity 2 % Genes 100 %
CustomNext: Cancer. By Ambry Genetics (United States). BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, DICER1 , (...) View the complete list with 47 more genes Panel complete gene list BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, SUFU, DICER1, POT1, CDH1, CDK4, CDKN1B, CDKN2A, GALNT12, GREM1, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, AIP, FANCC, FH, ALK, HOXB13, APC, SMAD4, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, NF2, ATM, NTHL1, PMS2, PHOX2B, POLD1, POLE, PRKAR1A, BAP1, BARD1, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET Specificity 2 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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