All individuals with variants in gene ACAD8

37 entries on 1 page. Showing entries 1 - 37.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
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Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00001719 - Submitted by database curator - F ? Germany white - - - - IBDD no clinical phenotype at age of diagnosis 2 1 Division of Human Genetics, Innsbruck
00001720 - Submitted by database curator - F ? - - - - - - IBDD ascertainment unknown 2 1 Division of Human Genetics, Innsbruck
00001721 - PubMed: Sass 2004 - F ? Germany white - - - - IBDD ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00001722 - PubMed: Sass 2004 - M ? Turkey white - - - - IBDD ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00001723 - Submitted by J. Zschocke - ? ? - - - - - - IBDD ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00001724 - PubMed: Pedersen 2006 - F ? Denmark white - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00001725 - PubMed: Pedersen 2006 - F ? United States white - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00001726 - PubMed: Pedersen 2006, PubMed: Koeberl 2003 - F ? United States white - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00001727 - PubMed: Pedersen 2006 - M ? United States white - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00001728 - PubMed: Nguyen 2002 - F ? - - - - - - IBDD ascertainment clinical presentation 2 1 Division of Human Genetics, Innsbruck
00001729 - PubMed: Yoo 2007 - M ? Korea, South (Republic) Asian - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00001730 - PubMed: Battaile 2004 "Newborn H" in Pedersen et al. (2006) ? ? - - - - - - IBDD ascertainment unknown 1 1 Division of Human Genetics, Innsbruck
00001731 - PubMed: Battaile 2004 "Newborn I" in Pedersen 2006 ? ? - - - - - - IBDD ascertainment unknown 1 1 Division of Human Genetics, Innsbruck
00001732 - PubMed: Oglesbee 2007 - F ? - Africa, North - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00001733 - PubMed: Oglesbee 2007 - F ? - white, European - - - - IBDD - 2 1 Division of Human Genetics, Innsbruck
00001734 - PubMed: Oglesbee 2007, ? PubMed: Pena 2012 Patient 3a in Oglesbee et al. (2007), Sibling of patient 3b in Oglesbee et al. (2007), ? Patient 6 in Pena et al. (2012)?rn M ? India East, Asian - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00001735 - PubMed: Oglesbee 2007, ? PubMed: Pena 2012 Patient 4 in Oglesbee et al. (2007). ? Patient 5 in Pena et al. (2012)?rn F ? - white, European - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00001736 - PubMed: Oglesbee 2007 - F ? - white, European - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00001737 - PubMed: Oglesbee 2007 Patient 7a in Oglesbee et al. (2007) M ? - Hispanic - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00001738 - PubMed: Oglesbee 2007 - M ? - white, European - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00001739 - PubMed: Oglesbee 2007 - M ? - Hispanic - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00001740 - PubMed: Oglesbee 2007 - M ? - African-American - - - - IBDD ascertainment newborn screening 1 1 Division of Human Genetics, Innsbruck
00001741 - PubMed: Popek 2010 consanguineous parents, patient is additionally affected with glutaric aciduria type 1 F yes Jordan - - - - - IBDD ascertainment newborn screening; additionally affected with glutaric aciduria type 1 2 1 Division of Human Genetics, Innsbruck
00001742 - PubMed: Oglesbee 2007, ? PubMed: Pena 2012 Patient 3b in Oglesbee et al. (2007), Sibling of patient 3a in Oglesbee et al. (2007), ? Patient 7 in Pena et al. (2012)? F ? India East, Asian - - - - IBDD ascertainment newborn screening 2 1 Division of Human Genetics, Innsbruck
00180960 - - unaffected heterozygous carrier parents M no Spain - 00y11m - - - IBDD - 2 1 Belen Perez
00181000 - - - - - - - - - - - IBDD - 2 1 Belen Perez
00181001 - - - - - - - - - - - IBDD - 2 1 Belen Perez
00181008 - - - - - - - - - - - IBDD - 2 1 Belen Perez
00290308 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00452253 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 3 Johan den Dunnen
00452254 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 2 Johan den Dunnen
00452255 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 1 Johan den Dunnen
00453585 Pat1 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 2 1 Johan den Dunnen
00453586 Pat2 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 2 1 Johan den Dunnen
00453587 Pat3 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 2 1 Johan den Dunnen
00453588 Pat4 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - metabolic syndrome see paper; ..., newborn screening tandem mass spectrometry dried blood spots 2 1 Johan den Dunnen
00470683 Pat44 PubMed: Horbacz 2025 patient, affected mother F - Poland - - - - - scoliosis see paper; ... scoliosis, no other skeletal defects; back pain; cleft lip; physical activity 1 1 Johan den Dunnen
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