All individuals with variants in gene FKBP14

39 entries on 1 page. Showing entries 1 - 39.
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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 - 0 - - 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 - 0 - - 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 - 0 - - 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 - 0 - - 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) - - 0 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 - 0 - - EDS see paper; … 1 1 Johan den Dunnen
00260891 P2/FII PubMed: Giunta 2018 - F - Iran - - 0 - - 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 - - 0 - - EDS see paper; … 1 2 Johan den Dunnen
00260893 P4/FIII PubMed: Giunta 2018 - M - Pakistan - - 0 - - 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 - - 0 - - EDS see paper; … 1 2 Johan den Dunnen
00260895 P6/FIV PubMed: Giunta 2018 - M - Pakistan - - 0 - - EDS see paper; … 1 1 Johan den Dunnen
00260896 P7/FV PubMed: Giunta 2018 - F - Croatia (Hrvatska) - - 0 - - EDS see paper; … 1 1 Johan den Dunnen
00260897 P8/FVI PubMed: Giunta 2018 - F - Austria - - 0 - - EDS see paper; … 1 1 Johan den Dunnen
00260898 P9/FVII PubMed: Giunta 2018 - F - Brazil white - 0 - - EDS see paper; … 1 1 Johan den Dunnen
00260899 P10/FVIII PubMed: Giunta 2018 - F - United States white - 0 - - EDS see paper; … 1 1 Johan den Dunnen
00260900 P11/FIX PubMed: Giunta 2018 - M - United States white - 0 - - EDS see paper; … 1 1 Johan den Dunnen
00260901 P12/FX PubMed: Giunta 2018 - F - Poland - - 0 - - EDS see paper; … 1 1 Johan den Dunnen
00260902 P13/FXI PubMed: Giunta 2018 - F - United Kingdom (Great Britain) white - 0 - - EDS see paper; … 1 1 Johan den Dunnen
00260903 P14/FXII PubMed: Giunta 2018 - M - Turkey - - 0 - - EDS see paper; … 1 1 Johan den Dunnen
00260904 P15/FXIII PubMed: Giunta 2018 - F - United Kingdom (Great Britain) white - 0 - - EDS see paper; … 1 1 Johan den Dunnen
00260905 P16/FXIV PubMed: Giunta 2018 - M - United Kingdom (Great Britain) white - 0 - - EDS see paper; … 1 1 Johan den Dunnen
00260906 Pat17 PubMed: Giunta 2018 - M - United Kingdom (Great Britain) white - 0 - - EDS - 1 1 Johan den Dunnen
00294423 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 120 Mohammed Faruq
00305152 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 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. - - - - - 0 - - 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 - 0 - - 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 - 0 - - EDS, EDSKSCL2 Originally described as EDS FKBP22, 1 1 Raymond Dalgleish
00319491 - PubMed: Bursztejn et al.,2016 - - - France France - 0 - - 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 - 0 - - 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. - - - - - 0 - - 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 - 0 - - ? - 1 1 Raymond Dalgleish
00319495 P1/F1 PubMed: Giunta et al., 2018 - - - Egypt Egypt/Ara - 0 - - EDS, EDSKSCL2 - 1 1 Cecilia Giunta
00361595 07DG-0027 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - 0 - - ID not syndromic; global developmental delay, joint hyperlaxity, hypotonia 1 1 Johan den Dunnen
00374731 S-2493 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00413322 - - - - - - - - - - - EDSKSCL2 - 1 1 Marlies Colman
00413323 - - - - - - - - - - - EDSKSCL2 - 1 1 Marlies Colman
00413343 - - - - - - - - - - - EDSKSCL2 - 1 1 Marlies Colman
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