All individuals with variants in gene TNXB

75 entries on 1 page. Showing entries 1 - 75.
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00228665 son PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - M - Netherlands - - - - - DPDD see paper; ..., born with apparent cortical blindness, subsequently exhibited severe developmental delay; 2y-severe spasticity, hyperreflexia felt secondary to intrauterine stroke; multiple brain MRIs delay in myelination; 18y-spastic paraparesis, mild intellectual disability 1 1 Johan den Dunnen
00260657 patient PubMed: Rymen 2019, Journal: Rymen 2019 - F yes Switzerland - - - - - EDSCLL - 1 1 Marco Ritelli
00266303 Individual1 - - F - Italy - - - - - EDSCLL soft and hyperelastic skin, generalized joint hypermobility and related musculoskeletal complications, chronic constipation, showed progressive finger contractures and shortened metatarsals 2 1 Lucia Micale
00266304 individual2 - - F - Italy - 26y - - - EDSCLL soft and hyperelastic skin, generalized joint hypermobility and related musculoskeletal complications, and chronic constipation 2 1 Lucia Micale
00275686 - - - F no - - >40y - - - EDSCLL - 2 1 Corinne Metay
00294068 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 34 Mohammed Faruq
00294069 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00294071 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294072 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 23 Mohammed Faruq
00294073 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 93 Mohammed Faruq
00295989 - - - F - - - - - - - ? Abnormality of the cerebral vasculature (HP:0100659); Intracranial hemorrhage (HP:0002170); Vasculitis (HP:0002633) 1 1 Andreas Laner
00296388 - - - M - - - - - - - ? Abnormality of the atrial septum (HP:0011994); Abnormality of the aorta (HP:0001679); Secundum atrial septal defect (HP:0001684); Abnormality of connective tissue (HP:0003549); Dilatation of the ascending aorta (HP:0005111) 1 1 Andreas Laner
00300632 - - - M - Germany - - - - - ? Muscular hypotonia (HP:0001252); Poor suck (HP:0002033); Facial hypotonia (HP:0000297); Oral motor hypotonia (HP:0030190); Limb-girdle muscle weakness (HP:0003325); Gowers sign (HP:0003391); Scapular winging (HP:0003691); Proximal muscle weakness (HP:0003701); Pelvic girdle muscle weakness (HP:0003749) 2 1 Andreas Laner
00305084 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00316075 BO7 PubMed: Heidet 2017 - - - France - - - - - kidney disease preauricular pit, deafness 1 1 Johan den Dunnen
00316116 K169 PubMed: Heidet 2017 fetus - - France - - - - - CAKUT unilateral multicystic dysplasia; unilateral kidney agenesis 1 1 Johan den Dunnen
00317979 Fam1Pat1 PubMed: Hamada 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - WEST see paper; ... 1 1 Johan den Dunnen
00319497 - PubMed: Zweers et al., 2005 The patient had normal TNX serum levels. - - - - - - - - EDS - 1 1 Raymond Dalgleish
00319498 Family XI PubMed: Demirdas et al., 2016 The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - 2 1 Raymond Dalgleish
00319499 Family V PubMed: Demirdas et al., 2016 This patient was previously described in PubMed: Voermans et al., 2009.The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - 2 1 Raymond Dalgleish
00319500 Patient 2 PubMed: Micale et al., 2019 The patient carried a c.1150dupG variant and a pseudogene(TNXA)-derived 120bps deletion, likely the result of the formation of a chimeric TNXA/TNXB fusion gene. The technique used was the custom NGS Gene panel. - - Italy Italian - - - - EDS, EDSCLL - 2 1 Raymond Dalgleish
00319501 Patient 4 PubMed: Schalkwijk et al., 2001 This patient's parents were unavailable for study. The variant was incorrectly described as an insertion, rather than a duplication. - - - - - - - - EDS Originally described as EDS Autosomal Recessive, 1 1 Raymond Dalgleish
00319502 Patient 1 PubMed: Micale et al., 2019 The patient carried a c.8278C>T variant and a deletion including exons 5 and 6, generating a frameshift with the insertion of a premature stop codon. The exact start and end points of the deletion were uncertain. The technique used was the custom NGS Gene panel. - - Italy Italian - - - - EDS, EDSCLL - 2 1 Raymond Dalgleish
00319503 Family IX PubMed: Demirdas et al., 2016 The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - 2 1 Raymond Dalgleish
00319504 - - The testing laboratory (University of Nebraska Medical Center) describes this variant as being of Uncertain Clinical Significance.The status of patient's disease classification has been changed from EDS III to undiagnosed on the basis of further clinical tests - 3 May 2017. The technique used was the custom NGS Gene panel. - - - white - - - - EDS, EDSHMB - 1 1 James Bertz
00319505 - PubMed: Sakiyama et al., 2015 The patient had recurrent gastrointenstinal perforation.The technique used was the custom NGS Gene panel. - - Japan Japanese - - - - EDS, EDSCLL - 2 1 Raymond Dalgleish
00319506 Family III PubMed: Demirdas et al., 2016 The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSCLL - 2 1 Raymond Dalgleish
00319507 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. - - - - - - - - EDS, EDSCLL - 3 1 Raymond Dalgleish
00319508 - PubMed: Tokhmafshan et al., 2020 - - - - European (non-Finnish) - - - - VUR8 - 1 1 Raymond Dalgleish
00319509 Patient 1 PubMed: Schalkwijk et al., 2001, PubMed: Voermans et al., 2007, PubMed: Voermans et al., 2007 This patient's mother was deceased, but the patient's sister was heterozygous for the variant, with the maternal allele carrying the deletion - - - - - - - - EDS Originally described as EDS Autosomal Recessive, 1 1 Raymond Dalgleish
00319510 Patient 5 PubMed: Schalkwijk et al., 2001 This patient's parents were unavailable for study. - - - - - - - - EDS Originally described as EDS Autosomal Recessive, 1 1 Raymond Dalgleish
00319511 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. - - - - - - - - EDS, EDSCLL - 3 1 Raymond Dalgleish
00319512 - PubMed: Zweers et al., 2005 The patient had normal TNX serum levels.The variant is incorrectly described by the authors as 3583AG. - - - - - - - - EDS, EDSHMB - 1 1 Raymond Dalgleish
00319513 - PubMed: Tokhmafshan et al., 2020 - - - - European (non-Finnish) - - - - VUR8 - 1 1 Raymond Dalgleish
00319514 - PubMed: Mackenroth et al., 2016 The patient also harbours the COL1A1 variant c.4006-1G>A.The technique used was whole exome sequencing. - - Germany German - - - - EDS osteogenesis imperfecta/Ehlers-Danlos syndrome overlap, 2 1 Raymond Dalgleish
00319515 Family 2 PubMed: Gbadegesin et al., 2013 - - - - white - - - - VUR8 - 1 1 Raymond Dalgleish
00319516 - PubMed: Lee et al., 2014 The technique used was whole genome sequencing. - - - - - - - - EDS, EDSHMB - 1 1 Raymond Dalgleish
00319517 - PubMed: Kaufman and Butler, 2016 The technique used was the custom NGS Gene panel. - - - Jewish-Ashkenazi - - - - EDS, EDSCLL - 1 1 Raymond Dalgleish
00319518 - PubMed: Tokhmafshan et al., 2020 - - - - - - - - - VUR8 - 1 1 Raymond Dalgleish
00319519 - PubMed: Tokhmafshan et al., 2020 - - - - European (non-Finnish) - - - - VUR8 - 1 1 Raymond Dalgleish
00319520 - - The patient's older affected sister also harbours the duplication sequence variant. - - - - - - - - EDS, EDSHMB - 2 1 Sandra Gajewski
00319521 - PubMed: Wang et al., 2018 The variants cause susceptibility towards the phenotype, but are not confirmed to be pathogenic in isolation. The technique used was whole exome sequencing. - - China Han Chinese - - - - ? Artery dissections, 2 1 Raymond Dalgleish
00319522 - PubMed: Gbadegesin et al., 2013 The variant was described in the published account as ENST00000375244:c.9770C>TThe technique used was whole exome sequencing. - - - white - - - - VUR8 - 1 1 Raymond Dalgleish
00319523 - PubMed: Tokhmafshan et al., 2020 - - - - South Asian - - - - VUR8 - 1 1 Raymond Dalgleish
00319524 - - Performed by Prevention Genetics.The proband's sister and daughter also harbour the same variant but are not definitively diagnosed as having EDS III. - - England;Netherlands English, Dutch - - - - EDS, EDSHMB - 1 1 Michelle Dolan
00319525 - - - - - Germany German - - - - EDS, EDSHMB - 1 1 Karina Sturm
00319526 - PubMed: Tokhmafshan et al., 2020 - - - - European (non-Finnish) - - - - VUR8 - 1 1 Raymond Dalgleish
00319527 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. - - - - - - - - EDS, EDSCLL - 2 1 Raymond Dalgleish
00319528 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. - - - - - - - - EDS, EDSCLL - 2 1 Raymond Dalgleish
00319529 - PubMed: Lao et al., 2019 26 patients with congenital adrenal hyperplasia showed evidence of the CAH-X CH-1 genotype, a chimeric TNXA/TNXB gene featuring the described variant. Up to 24 patients had a complete or partial clinical evaluation for EDS. - - - - - - - - adrenal hyperplasia, EDS - 1 1 Raymond Dalgleish
00319530 - PubMed: Zweers et al., 2005 The patient had normal TNX serum levels.The variant is incorrectly described by the authors as 12097CA.This is a common sequence variant which is unlikely to be disease-causing. - - - - - - - - EDS, EDSHMB - 1 1 Raymond Dalgleish
00319531 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. - - - - - - - - adrenal hyperplasia - 1 1 Raymond Dalgleish
00319532 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. - - - - - - - - adrenal hyperplasia - 1 1 Raymond Dalgleish
00319533 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. - - - - - - - - adrenal hyperplasia - 1 1 Raymond Dalgleish
00319534 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. - - - - - - - - adrenal hyperplasia - 1 1 Raymond Dalgleish
00319535 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. - - - - - - - - adrenal hyperplasia - 1 1 Raymond Dalgleish
00319536 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. - - - - - - - - adrenal hyperplasia - 1 1 Raymond Dalgleish
00319537 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. - - - - - - - - adrenal hyperplasia - 1 1 Raymond Dalgleish
00319538 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. - - - - - - - - adrenal hyperplasia, EDS - 4 1 Raymond Dalgleish
00319539 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. - - - - - - - - adrenal hyperplasia, EDS - 4 1 Raymond Dalgleish
00319540 P3 PubMed: Chen et al., 2016 The technique used was the custom NGS Gene panel. - - - - - - - - adrenal hyperplasia, EDS - 1 1 Raymond Dalgleish
00319541 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. - - - - - - - - EDS, EDSCLL - 1 1 Raymond Dalgleish
00319542 - 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. - - - - - - - - adrenal hyperplasia, EDS - 1 1 Raymond Dalgleish
00319543 - PubMed: Pénisson-Besnier et al., 2013 This patient's maternal allele carries a complex rearrangement, which was first described by {PMID9288108:Burch et al., 1997}. - - - - - - - - EDSCLL TNXB deficiency, 1 1 Raymond Dalgleish
00319544 - PubMed: Penisson-Besnier The patient carried a TNXA/TNXB fusion gene with a 30kb deletion on one allele, and the c.12214C>T variant on the other allele. His father and brother were asymptomatic and heterozygous for only the substitution variant. Authors predict that the variant is only pathogenic when compound heterozygous with another null allele. - - - - - - - - EDSCLL TNXB deficiency, 1 1 Raymond Dalgleish
00319545 - PubMed: Tokhmafshan et al., 2020 - - - - European (non-Finnish) - - - - VUR8 - 1 1 Raymond Dalgleish
00376129 private email - - F yes (United States) Italy - - - - EDS presents with a severe form of hypermobile Ehlers Danlos syndrome 1 1 Johan den Dunnen
00397593 patient - - F yes United States Italy - - - - EDS, neuropathy, peripheral Easy bruising Velvety skin Elastic like skin Chronic musclskeletal pain Hypermobile joints 1 1 Noelle Pastor
00413441 patient PubMed: Burch 1997 - M - United States - - - - - ? see paper; ..., congenital adrenal hyperplasia, 21-hydroxylase deficiency, hyperextensible skin, hyperextensible joints, easy bruising, poor wound healing 1 1 Johan den Dunnen
00413442 Pat2 PubMed: Schalkwijk 2001 3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F - Netherlands - - - - - EDS - 1 1 Johan den Dunnen
00413443 Pat3 PubMed: Schalkwijk 2001 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - EDS congenital adrenal hyperplasia, Ehlers-Danlos syndrome 1 1 Johan den Dunnen
00413448 - PubMed: Colman 2021, Journal: Colman 2021 - - - - - - - - - EDS - 1 1 Johan den Dunnen
00413449 - PubMed: Colman 2021, Journal: Colman 2021 - - - - - - - - - EDS - 1 1 Johan den Dunnen
00414433 WHP100 PubMed: Sun 2018 - F - China - - - - - ? Finnish type Amyloidosis;Alport Syndrome;Vesicoureteral Reflux 8 1 1 LOVD
00434896 4 PubMed: Fransen et al., 2021 34 candidate genes targeted from 787 independent keratoconus patients and 856 ethnically matched controls, including results from unpublished studies and literature search. 7 patients with EDS gene variants. ? no Belgium - - - - - EDS, KCTN1 Diagnosis was based on slit-lamp biomicroscopy and tomographic evaluation of the cornea., Hypermobility, fragile skin, easy bruising. 1 1 Nassim Louail
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