Full data view for gene TNXB

Ehlers Danlos Syndrome Variant Database


Information The variants shown are described using the NM_019105.6 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
Legend   How to query  

Effect     
Exon     
AscendingDNA change (cDNA)     
RNA change     
Protein     
Predicted     
Type/DNA     
Allele     
Classification method     
Clinical classification     
DNA change (genomic) (hg19)     
DNA change (hg38)     
Published as     
ISCN     
DB-ID     
Variant remarks     
Reference     
ClinVar ID     
dbSNP ID     
Origin     
Segregation     
Frequency     
Re-site     
VIP     
Methylation     
Template     
Technique     
Tissue     
Remarks     
Disease     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Panel size     
Owner     
+/. - c.12174C>G r.(?) p.(Cys4058Trp) - - Unknown - pathogenic g.32010262G>C g.32042485G>C TNXB(NM_019105.8):c.12174C>G (p.C4058W) - TNXB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Paternal (confirmed) - likely pathogenic g.32010262G>C - - - TNXB_000018 - PubMed: Morissette et al., 2015 - - Unknown - - - - - DNA SEQ-NG, PCR, SEQ - - adrenal hyperplasia Family 1: II-2 PubMed: Morissette et al., 2015 The patient and his father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed some characteristics of hypermobile EDS.The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+?/+? 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Maternal (confirmed) - likely pathogenic g.32010262G>C - - - TNXB_000018 - PubMed: Morissette et al., 2015 - - Unknown - - - - - DNA SEQ-NG, PCR, SEQ - - adrenal hyperplasia Family 2: II-1 PubMed: Morissette et al., 2015 The patient and her mother carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They had several characteristics of hypermobile EDS. The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+?/+? 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Maternal (confirmed) - likely pathogenic g.32010262G>C - - - TNXB_000018 - PubMed: Morissette et al., 2015 - - Unknown - - - - - DNA SEQ-NG, PCR, SEQ - - adrenal hyperplasia Family 3: II-1 PubMed: Morissette et al., 2015 The patient and her mother carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed some characteristics of hypermobile EDS.The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+?/+? 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Paternal (confirmed) - likely pathogenic g.32010262G>C - - - TNXB_000018 - PubMed: Morissette et al., 2015 - - Unknown - - - - - DNA SEQ-NG, PCR, SEQ - - adrenal hyperplasia Family 4: II-2 PubMed: Morissette et al., 2015 The patient and his father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. They showed significant characteristics of hypermobile EDS.The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+?/+? 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Paternal (confirmed) - likely pathogenic g.32010262G>C - - - TNXB_000018 - PubMed: Morissette et al., 2015 - - Unknown - - - - - DNA SEQ-NG, PCR, SEQ - - adrenal hyperplasia Family 5: II-3 PubMed: Morissette et al., 2015 The patient and her father carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. Both patients showed characteristics of hypermobile EDS, and the father showed no CAH phenotype. The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+?/+? 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Maternal (confirmed) - likely pathogenic g.32010262G>C - - - TNXB_000018 - PubMed: Morissette et al., 2015 - - Unknown - - - - - DNA SEQ-NG, PCR, SEQ - - adrenal hyperplasia Family 6: II-1 PubMed: Morissette et al., 2015 The patient, her mother, and brother carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. The mother was a carrier for CAH, but did not display the phenotype. The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+?/+? 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Maternal (confirmed) - likely pathogenic g.32010262G>C - - - TNXB_000018 - PubMed: Morissette et al., 2015 - - Unknown - - - - - DNA SEQ-NG, PCR, SEQ - - adrenal hyperplasia Family 7:II-3 PubMed: Morissette et al., 2015 The patient, her mother, and sister carried a pseudogene-derived variant from the formation of a chimeric gene between TNXA and TNXB. The mother and sister were carriers for CAH, but did not display the phenotype.The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+?/+? 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Unknown - likely pathogenic g.32010262G>C - - - TNXB_000018 - PubMed: Chen et al., 2016 - - Unknown - - - - - DNA SEQ-NG, PCR, SEQ - - adrenal hyperplasia, EDS P1 PubMed: Chen et al., 2016 The patient is homozygous for a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+?/+? 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Paternal (confirmed) - likely pathogenic g.32010262G>C - - - TNXB_000018 - PubMed: Chen et al., 2016 - - Unknown - - - - - DNA SEQ-NG, PCR, SEQ - - adrenal hyperplasia, EDS P2 PubMed: Chen et al., 2016 The patient inherited a three variant cluster, c. 12218G>A, c.12514G>A, and c.12524G>A, which authors present as a novel chimeric form causing CAH and TNXB haploinsufficiency. The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+?/+? 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Both (homozygous) - likely pathogenic g.32010262G>C - - - TNXB_000018 - PubMed: Chen et al., 2016 - - Unknown - - - - - DNA SEQ-NG, PCR, SEQ - - adrenal hyperplasia, EDS P3 PubMed: Chen et al., 2016 The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+?/- 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Parent #2 - VUS g.32010262G>C - - - TNXB_000018 - PubMed: Demirdas et al., 2016 - - Unknown - - - - - DNA SEQ-NG, MLPA, SEQ - - EDS, EDSCLL Family II PubMed: Demirdas et al., 2016 This patient was previously described in PubMed: Schalkwijk et al., 2001 as Patient 2. There are two other siblings carrying the same variant and phenotype. The variants are TNXA-derived, probably due to the formation of a chimeric gene. The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
-/- 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Parent #1 - likely benign g.32010262G>C - - - TNXB_000018 - PubMed: Demirdas et al., 2016 - - Unknown - - - - - DNA SEQ-NG, MLPA, SEQ - - EDS, EDSCLL Family IV PubMed: Demirdas et al., 2016 This family was previously described in PubMed: Voermans et al., 2009. The patient carried a TNXB/TNXA fusion gene on the allele for Parent #1, causing a 30kb deletion encompassing CYP21A2. The fusion gene carried the described variants. The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
-/- 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Parent #2 - likely benign g.32010262G>C - - - TNXB_000018 - PubMed: Demirdas et al., 2016 - - Unknown - - - - - DNA SEQ-NG, MLPA, SEQ - - EDS, EDSCLL Family VII PubMed: Demirdas et al., 2016 This patient was previously described as Patient 2 in {PMID 21959861:Hendriks et al., 2012}. The patient carried a TNXB/TNXA fusion gene from Parent#2 with a 30kb deletion encompassing CYP21A2. The fusion gene carried the described variants. The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
-/- 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Parent #2 - likely benign g.32010262G>C - - - TNXB_000018 - PubMed: Demirdas et al., 2016 - - Unknown - - - - - DNA SEQ-NG, MLPA, SEQ - - EDS, EDSCLL Family VIII PubMed: Demirdas et al., 2016 The patient carried a TNXB/TNXA fusion gene with a 30kb deletion encompassing CYP21A2 on the allele from Parent #2. The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
-/- 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Both (homozygous) - likely benign g.32010262G>C - - - TNXB_000018 - PubMed: Demirdas et al., 2016 - - Unknown - - - - - DNA SEQ-NG, SEQ - - EDS, EDSCLL Family X PubMed: Demirdas et al., 2016 This patient was previously described in {PMID21959861:Hendriks et al., 2012}. The patient carries a TNXB/TNXA fusion gene with a 30kb deletion encompassing CYP21A2 on the allele from Parent #1.The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+?/+? 40 c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Unknown - likely pathogenic g.32010262G>C - - - TNXB_000018 - PubMed: Lao et al., 2019 - - Unknown - - - - - DNA PCR, SEQ - - adrenal hyperplasia, EDS - PubMed: Lao et al., 2019 18 patients with congenital adrenal hyperplasia carried the CAH-X CH-2 genotype, a chimeric TNXA/TNXB gene carrying the described variants. Up to 16 patients had a complete or partial clinical evaluation for EDS. - - - - - - - - 1 Raymond Dalgleish
+/. - c.12174C>G r.(?) p.(Cys4058Trp) missense - Both (homozygous) ACMG likely pathogenic (recessive) g.32010262G>C g.32042485G>C - - TNXB_000018 - - - - Germline - - - - - DNA SEQ-NG-IT blood - EDSCLL Patient 6 - - F - China - - - - - 1 Tomoki Kosho
+/. - c.12174C>G r.(?) p.(Cys4058Trp) missense substitution Parent #2 ACMG likely pathogenic (recessive) g.32010262G>C g.32042485G>C - - TNXB_000018 - - - - Germline - - - - - DNA SEQ-NG-IT blood - EDSCLL Patient 7 - - M - Japan - - - - - 1 Tomoki Kosho
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.