All individuals with variants in gene FKBP14

45 entries on 1 page. Showing entries 1 - 45.
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00001642 - PubMed: Baumann 2012 The proband (P1) is great nephew of individual P2 who is also homozygous for the same variant. M ? Austria white - - - - EDS hypermobility of large joints; hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; eyse bluish sclerae; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis, hypertrophic scars 2 1 Division of Human Genetics, Innsbruck
00001643 - PubMed: Baumann 2012 umbical herniae F ? Austria white - - - - EDS hypermobility of large joints;hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, easy bruising 2 1 Division of Human Genetics, Innsbruck
00001644 - PubMed: Baumann 2012 umbilical herniae F ? Italy white - - - - EDS hypermobility of large joints;hypermobility of small joints;recurrent dislocations; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis, easy bruising 2 1 Division of Human Genetics, Innsbruck
00001645 - PubMed: Baumann 2012 PubMed: Bursztejn 2017 - F ? France white - - - - EDS hypermobility of large joints;hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: soft, plantar softness, follicular hyperkeratosis 2 1 Division of Human Genetics, Innsbruck
00001646 - PubMed: Baumann 2012, Journal: Baumann 2012 umbilical herniae, microcephaly, learning difficulties M ? - white - - - - EDS hypermobility of large joints;hypermobility of small joints;recurrent dislocations; progressive kyphoscoliosis;flat feet;fractures; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; valvular abnormalities heart; skin: hyperelastic, soft, plantar softness, easy bruising 2 1 Division of Human Genetics, Innsbruck
00001647 P6 PubMed: Baumann 2012, Journal: Baumann 2012 - F ? Germany white - - - - EDS hypermobility of large joints;hypermobility of small joints; progressive kyphoscoliosis;flat feet; muscle hypotonia at birth; poor head control in infancy; weakness improving in infancy; delayed motor development; muscular atrophy; skin: hyperelastic, soft, plantar softness, follicular hyperkeratosis 2 1 Division of Human Genetics, Innsbruck
00050382 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intrauterine growth retardation, proportionate short stature, clinodactyly of the 5th finger, webbed neck, epicanthus, intellectual disability mild 1 1 Johan den Dunnen
00260890 P1/FI PubMed: Giunta 2018 - F - Egypt Arab - - - - EDS see paper; … 1 1 Johan den Dunnen
00260891 P2/FII PubMed: Giunta 2018 - F - Iran - - - - - EDS see paper; … 1 1 Johan den Dunnen
00260892 P3/FIII PubMed: Giunta 2018 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Pakistan - - - - - EDS see paper; … 1 2 Johan den Dunnen
00260893 P4/FIII PubMed: Giunta 2018 - M - Pakistan - - - - - EDS see paper; … 1 1 Johan den Dunnen
00260894 P5/FIV PubMed: Giunta 2018 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Pakistan - - - - - EDS see paper; … 1 2 Johan den Dunnen
00260895 P6/FIV PubMed: Giunta 2018 - M - Pakistan - - - - - EDS see paper; … 1 1 Johan den Dunnen
00260896 P7/FV PubMed: Giunta 2018 - F - Croatia (Hrvatska) - - - - - EDS see paper; … 1 1 Johan den Dunnen
00260897 P8/FVI PubMed: Giunta 2018 - F - Austria - - - - - EDS see paper; … 1 1 Johan den Dunnen
00260898 P9/FVII PubMed: Giunta 2018 - F - Brazil white - - - - EDS see paper; … 1 1 Johan den Dunnen
00260899 P10/FVIII PubMed: Giunta 2018 - F - United States white - - - - EDS see paper; … 1 1 Johan den Dunnen
00260900 P11/FIX PubMed: Giunta 2018 - M - United States white - - - - EDS see paper; … 1 1 Johan den Dunnen
00260901 P12/FX PubMed: Giunta 2018 - F - Poland - - - - - EDS see paper; … 1 1 Johan den Dunnen
00260902 P13/FXI PubMed: Giunta 2018 - F - United Kingdom (Great Britain) white - - - - EDS see paper; … 1 1 Johan den Dunnen
00260903 P14/FXII PubMed: Giunta 2018 - M - Turkey - - - - - EDS see paper; … 1 1 Johan den Dunnen
00260904 P15/FXIII PubMed: Giunta 2018 - F - United Kingdom (Great Britain) white - - - - EDS see paper; … 1 1 Johan den Dunnen
00260905 P16/FXIV PubMed: Giunta 2018 - M - United Kingdom (Great Britain) white - - - - EDS see paper; … 1 1 Johan den Dunnen
00260906 Pat17 PubMed: Giunta 2018 - M - United Kingdom (Great Britain) white - - - - EDS - 1 1 Johan den Dunnen
00294423 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 120 Mohammed Faruq
00305152 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00319488 - PubMed: Aldeeri et al., 2014 This patient was presented again by {PMID27023906:Alazami et al., 2016} as Family 17 ID: 07DG-0027.The intronic deletion is predicted to lead to the insertion of 17 nucleotides into the transcript and to a new open reading frame containing a premature termination codon. - - - - - - - - EDS, EDSKSCL2 - 1 1 Raymond Dalgleish
00319489 - {PMID27149304 :Dordoni et al. 2016} Typographical error in 'Molecular Characterization' section states the novel mutation to be c.573_576del, not the correct c.573_575 which is stated elsewhere and confirmed by the data. - - Italy Italy - - - - EDS, EDSKSCL2 Originally described as EDS FKBP22, 2 1 Raymond Dalgleish
00319490 - PubMed: Murray et al., 2014 - - - Germany;United Kingdom (Great Britain) German & English American - - - - EDS, EDSKSCL2 Originally described as EDS FKBP22, 1 1 Raymond Dalgleish
00319491 - PubMed: Bursztejn et al.,2016 - - - France France - - - - EDS, EDSKSCL2 Originally described as EDS FKBP22, 1 1 Raymond Dalgleish
00319492 - PubMed: Ruiz-Botero et al., 2019 The patient (17F) was born to consanguineous parents who are first cousins. The technique used was whole exome sequencing. - - Colombia Colombian - - - - EDS, EDSKSCL2 - 1 1 Raymond Dalgleish
00319493 - PubMed: Castori et al., 2019 The patient (15F) was conceived via IVF and has an unaffected twin brother. Parents were not consanguineous. The technique used was the custom NGS Gene panel. - - - - - - - - EDS, EDSKSCL2 - 1 1 Raymond Dalgleish
00319494 Case 2 PubMed: Volozonoka et al., 2020 The patient (37F) presented with a diagnosis and/or history of cervical insufficiency, a leading cause of preterm birth.The technique used was the custom NGS Gene panel. - - - white - - - - ? - 1 1 Raymond Dalgleish
00319495 P1/F1 PubMed: Giunta et al., 2018 - - - Egypt Egypt/Ara - - - - EDS, EDSKSCL2 - 1 1 Cecilia Giunta
00361595 07DG-0027 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - - - - ID not syndromic; global developmental delay, joint hyperlaxity, hypotonia 1 1 Johan den Dunnen
00374731 S-2493 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00413322 - - - - - - - - - - - EDSKSCL2 - 1 1 Marlies Colman
00413323 - - - - - - - - - - - EDSKSCL2 - 1 1 Marlies Colman
00413343 - - - - - - - - - - - EDSKSCL2 - 1 1 Marlies Colman
00433373 Pat1 PubMed: Semyachkina et al., 2021 - M no Russia - - - - - EDSKSCL2 2nd degree kyphoscoliosis. Spina bifida sacralis dorsalis S3-S5. Bilateral nephroptosis. Mild bilateral hypermetropia. Open ductus arteriosus. Sinus arrhythmias. 1 1 Nassim Louail
00433374 Pat2 PubMed: Semyachkina et al., 2021 - F no Russia - - - - - EDSKSCL2 Pectus excavatum 2nd degree. Thoracolumbar scoliosis of the third degree. Beighton score of 8. Open ductus arteriosus. Bicuspid aortic valve. Bilateral nephroptosis. 1 1 Nassim Louail
00433375 Pat3 PubMed: Semyachkina et al., 2021 - F likely Russia - - - - - EDSKSCL2 Thoracolumbar dextroscoliosis 3rd degree. Osteoporosis. Beighton score of 8. Sinus arrhythmia. Pulmonary function impairment. Mild to bilateral sensorineural hearing loss. 1 1 Nassim Louail
00433376 Pat4 PubMed: Semyachkina et al., 2021 - M no Russia - - - - - EDSKSCL2 Pectus excavatum 2nd degree. Thoracolumbar scoliosis 4th degree. Sinus tachyarrhythmia. Bilateral sensorineural hearing loss. Astigmatism, chorioretinitis. 1 1 Nassim Louail
00433377 Pat5 PubMed: Semyachkina et al., 2021 - M no Russia - - - - - EDSKSCL2 Thoracolumbar levokyphoscoliosis of the 2nd degree. Osteoporosis. Nephroptosis. Mild bilateral mixed hearing loss. Mixed bilateral astigmatism. 1 1 Nassim Louail
00465823 Fam17 PubMed: Alazami 2016 patient - - Saudi Arabia - - - - - ? see paper; ..., Significant skin and joint laxity, excessively redundant umbilical skin, hypotonia, myopathy, global developmental delay, microcephaly, subtle dysmorphic features (sloping forehead, square nasal root, mild hypotelorism and epicanthal folds), patent ductus arteriosus 1 1 Johan den Dunnen
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