All individuals with variants in gene ERCC4

43 entries on 1 page. Showing entries 1 - 43.
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00000052 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000090 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00001638 - PubMed: Osorio 2013, Journal: Osorio 2013 - F - Spain white - - - - cancer, predisposition from high-risk familial breast and ovarian cancer pedigrees 1 1 Ana Osorio
00001649 - PubMed: Osorio 2013, Journal: Osorio 2013 found in 2 unrelated controls - - Spain white - - - - Healthy/Control - 1 2 Ana Osorio
00001650 - PubMed: Osorio 2013, Journal: Osorio 2013 - - - Spain white - - - - cancer, predisposition high-risk familial breast and ovarian cancer pedigrees 1 1 Ana Osorio
00001651 - PubMed: Osorio 2013, Journal: Osorio 2013 - - - Spain white - - - - cancer, predisposition high-risk familial breast and ovarian cancer pedigrees 1 1 Ana Osorio
00001652 - PubMed: Osorio 2013, Journal: Osorio 2013 - - - Spain white - - - - cancer, predisposition high-risk familial breast and ovarian cancer pedigrees 1 1 Ana Osorio
00001653 - PubMed: Osorio 2013, Journal: Osorio 2013 - - - Spain white - - - - Healthy/Control - 1 1 Ana Osorio
00001654 - PubMed: Osorio 2013, Journal: Osorio 2013 - - - Spain white - - - - Healthy/Control - 1 1 Ana Osorio
00001655 - PubMed: Osorio 2013, Journal: Osorio 2013 - - - Spain white - - - - cancer, predisposition high-risk familial breast and ovarian cancer pedigrees 1 1 Ana Osorio
00020018 - PubMed: Bogliolo 2013 - F no ? (unknown) - - - - - FANCQ bilateral absent thumbs, microsomy, esophageal atresia, a ventrally translocated anus, dysplastic and low-set ears; Nodermatological abnormality such as skin hyperpigmentation, photosensitivity, sunlight-induced scarring, or atrophy; BMF at the age of 2 years 2 1 Arleen D. Auerbach
00020019 - PubMed: Bogliolo 2013 - ? no ? (unknown) - - - - - FANCQ such as perinatal growth retardation, short stature, pronounced microcephaly, cafe¥-au-lait spots, an ostium-primum defect, biliary atresia with fibrosis of the liver, BMF;no spontaneous or UV-light-induced skin lesions 2 1 Arleen D. Auerbach
00073135 - ATX412 - M - France - - - - - XPF - 1 1 Claire Guissart
00132618 PatCALIF1010 PubMed: Mori 2018 - F no United States - - - - - progeroid see paper; ... 2 1 Junko Oshima
00132619 PatMME1010 PubMed: Mori 2018 - F no Mexico - - - - - progeroid see paper; ..., 54y-bilateral cataracts , tight atrophic skin: 30y-graying and thinning of hair; type II diabetes mellitus, osteoporosis, overall aged appearance; 68y-height 162 cm, weight 40 kg; 56y-papillary thyroid cancer; no cognitive impairment, no sun sensitivity; sister possibly affected 2 1 Junko Oshima
00230641 - - - F - - - - - - - ? HP:0002072 (Chorea) 1 1 IMGAG
00291364 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 11 Mohammed Faruq
00291365 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00291366 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291367 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00291368 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 156 Mohammed Faruq
00291369 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291370 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00291371 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 34 Mohammed Faruq
00291372 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 110 Mohammed Faruq
00301100 - - - F - (Germany) - - - - - ? Dementia (HP:0000726); Personality changes (HP:0000751); Chorea (HP:0002072); Global brain atrophy (HP:0002283); Hyperkinetic movements (HP:0002487); Motor impersistence (HP:0040200); Cognitive impairment (HP:0100543); Broad-based gait (HP:0002136) 2 1 IMGAG
00304491 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304492 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00304493 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304494 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00306119 PatCS1USAU PubMed: Kashiyama 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - CS prenatal microcephaly; born 41w, weight 2.9 kg, OFC 9th percentile first few months, OFC 1y-<2nd percentile; first year developed normally; 5y-multiple unusual plantar warts hands and forearms, unusual freckling hands and back of neck, tended to burn easily and quickly, no bad blisterering when exposed to sunlight; 7y-deep-set eyes, progressive scoliosis, multiple contractures feet, required lengthening Achilles tendon because of muscle cramps in hamstrings and calves; skin deeply pigmented, rashes, flat freckles; moderate bilateral hearing impairment, especially higher tones (<3y-normal hearing), short stature (height 110.4 cm [<2nd percentile], weight of 16.3 kg [<3rd percentile]), microcephaly (OFC 45.5 cm [<2nd percentile]), circulatory problems, bilateral astigmatism, no cataracts, attention deficit hyperactivity disorder, learning disability; MRI brain 3y-some delayed myelination, 7y-basal ganglia T1 shortening; severe migraines and headaches, ambulation lessened over time, gastrostomy-jejunostomy tube for feeding 2 1 Johan den Dunnen
00306122 PatXPCS1CD PubMed: Kashiyama 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - 12y - - - CS see paper; ..., 12y-deceased 2 1 Johan den Dunnen
00306174 PatXP126LO PubMed: Sijbers 1996, PubMed: Norris 1988 - - - United Kingdom (Great Britain) - - - - - XP - 4 1 Johan den Dunnen
00306175 PatXP42RO PubMed: Sijbers 1998 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M - Netherlands white - - - - XP see paper; ..., mild ocular photophobia from childhood, acute skin reactions upon sunlight exposure; >27y-basal and squamous cell carcinomas; >45y-progressive neurologic symptoms, intellectual decline, mild chorea and ataxia, marked cerebral and cerebelar atrophy 1 2 Johan den Dunnen
00306176 PatXP51RO PubMed: Niedernhofer 2006 - M - Afghanistan - - - - - progeroid see paper; ..., frequent sunburns, unique combination of progeroid symptoms, neurologic; hepatobiliary, musculoskeletal and haematopoietic symptoms 1 1 Johan den Dunnen
00306177 PatXP26BR PubMed: Ahmad 2010 - - - - - - - - - XP - 1 1 Johan den Dunnen
00306178 PatXP32BR PubMed: Ahmad 2010 - - - - - - - - - XP - 2 1 Johan den Dunnen
00306179 PatAS871 PubMed: Ahmad 2010 - - - - - - - - - XP severe XP with neurodegeneratio 2 1 Johan den Dunnen
00306180 PatXP62RO PubMed: Ahmad 2010 sib of XP42RO - - - - - - - - XP mild XP, late onset neurodegeneration 1 1 Johan den Dunnen
00306181 PatXP24KY PubMed: Matsumura 1998 - F - Japan - - - - - XP see paper; ... 1 1 Johan den Dunnen
00306182 PatXP24BR PubMed: Berneburg 2000,PubMed: Ahmad 2010 - - - - - - - - - XP severe XP, neurodegeneration, no skin cancer 2 1 Johan den Dunnen
00406933 588893 PubMed: Jiang 2022 analysis 486 colorectal cancer patients M - China - - - - - cancer, colon colon cancer (rectum), stage 0); colorectal cancer (mother; sister) 1 1 Johan den Dunnen
00406934 592158 PubMed: Jiang 2022 analysis 486 colorectal cancer patients F - China - - - - - cancer, colon colon cancer (hepatic flexure), stage IV); mismatch repair status proficient; no family history 1 1 Johan den Dunnen
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