All individuals with variants in gene ATRX

51 entries on 1 page. Showing entries 1 - 51.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00016841 Fam2 PubMed: Tzschach 2015 2-generation family, 2 affected, unaffected heterozygous carrier mother M - - - - - - - ID severely delayed psychomotor development, 25m-walking, no speech, microcephaly borderline short stature; 30y maternal uncle said microcephalic in childhood, OFC and height now 50th centile 1 2 Andreas Tzschach
00016842 Fam3 PubMed: Tzschach 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M no - - - - - - ID 7y/3y; severe intellectual disability, microcephaly, short nasal septum 1 2 Andreas Tzschach
00016925 Fam4 PubMed: Tzschach 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - - - - - - - ID severe intellectual disability, secondary microcephaly, muscular hypotonia, epilepsy, strabismus, short nasal septum, agenesis gallbladder, 3y5m-deceased of respiratory infection; younger brother primary microcephaly, micropenis, cryptorchidism, severely delayed psychomotor development, gallbladder agenesis 1 2 Andreas Tzschach
00050590 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? autism, specific learning disability, delayed speech and language development, seizures, macrocephaly, genital hypoplasia, joint hypermobility 1 2 Johan den Dunnen
00050655 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, generalized hypotonia, microcephaly, wide mouth, cryptorchidism 1 1 Johan den Dunnen
00050710 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? intrauterine growth retardation, feeding difficulties in infancy, generalized hypotonia, hypoglycemia, agenesis of corpus callosum, global developmental delay, cortical visual impairment, epicanthus, low-set posteriorly rotated ears, downturned corners of mouth, uplifted earlobe, preauricular pit, progressive microcephaly 1 1 Johan den Dunnen
00095109 - - - - ? - - - - Yes - MRXHF1 - 1 1 Karen Stals
00111409 S_090 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - - - - ID Male, 16 mo, hypotonia, severe developmental delay, renal anomalies, normal head circumference (maternal XI 86%); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344) 1 1 Bernt Popp
00133269 Case 1 - - M ? France - >22y - - - ATRX Osteosarcoma at 9 years 1 1 Julien Masliah-Planchon
00133270 Case 2 - - M ? - - 06y - - - ATRX Osteosarcoma 1 1 Julien Masliah-Planchon
00150144 26539891-FamBAB6085 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, microcephaly, spasticity 1 2 Johan den Dunnen
00150145 26539891-FamBAB6530 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, microcephaly 1 1 Johan den Dunnen
00183094 25644381-FamT48 PubMed: Hu 2016 family, 3 affected, 1 unaffected heterozygous carrier female M - - - - - - - MRX;IDX - 1 3 Johan den Dunnen
00183095 25644381-FamAU12 PubMed: Hu 2016 family, 3 affected, 3 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 3 Johan den Dunnen
00183141 25644381-FamD137 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00183165 25644381-FamL48 PubMed: Hu 2016 family, 3 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 3 Johan den Dunnen
00183169 25644381-FamAU54 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00183256 29446546-Pat1 PubMed: Pinz 2018 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - ? see paper; ..., 1 1 Johan den Dunnen
00265339 Fam6PatIV1 PubMed: Dias 2019 - M yes Egypt - - - - - ID intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; no self-injury/hand-biting; bruxism; no hypotonia in infancy; ambulatory; MRI brain abnormalities; seizures; no microcephaly; dysmorphic features; no ophthalmologic features; no gastrointestinal symptoms 1 2 Caroline Dias
00295095 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 21 Mohammed Faruq
00295096 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00295097 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00296770 APN-138 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected carrier mother/sister M - France - - - - - ID severe intellectual disability 1 1 Johan den Dunnen
00296774 APN-113 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 2 affected brothers, unaffected carrier mother M - France - - - - - ID severe intellectual disability, no dysmorphic traits, no urogenital abnormalities, no Heinz bodies 1 2 Johan den Dunnen
00305319 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00305958 - - - M - - - - - - - ? Abnormality of blood and blood-forming tissues (HP:0001871) 1 1 Andreas Laner
00307142 Patient 06 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307145 Patient 21 PubMed: Mendonca 2021 - M no Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307258 Patient 64 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Bilateral 1 1 Vanessa Mendonça
00307692 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Autism (HP:0000717) 1 1 Andreas Laner
00307719 UK10K_FINDWGA5411056 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307720 UK10K_FINDWGA5411171 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307721 UK10K_FINDWGA5410920 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307722 UK10K_FINDWGA5411357 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307723 UK10K_FINDWGA5411068 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307724 UK10K_FINDWGA5411170 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307789 UK10K_FINDWGA5411356 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307790 UK10K_FINDWGA5410693 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00314913 TrioN8 PubMed: Zhu 2015 - M - United States - - - - - ? Bicuspid aortic valve, bilateral coronal craniosynostoses, dysmorphic features, quadriplegic cerebral palsy, bilateral inguinal hernias, G-tube placement, obstructive sleep apnea, and severe intellectual disability. 1 1 Johan den Dunnen
00315010 GDB1323 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00315026 GDB1401 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00315047 GDB1355 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00361696 10DG1621 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - - - - ID not syndromic; intellectual disability, microcephaly, short stature, seizures 1 1 Johan den Dunnen
00374494 S-2432 PubMed: Ganapathy 2019 - - - India - - - - - ? Cerebral atrophy and global developmental delay 1 1 Johan den Dunnen
00374601 S-4021 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374668 S-2252 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00381848 184335 - - M no Germany - - - - - ATRX Intellectual disability, Intellectual disability, moderate, Muscular hypotonia, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Microcephaly, Drooling 1 1 Andreas Laner
00387731 M222 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents once removed - yes Iran Persia - - - - ID syndromic intellectual disability, no microcephaly 1 2 Johan den Dunnen
00387865 M8900286 PubMed: Hu 2019 family, 2 affected individuals, second cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, no microcephaly 1 2 Johan den Dunnen
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