All individuals with variants in gene ACTB

48 entries on 1 page. Showing entries 1 - 48.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 3 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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
00111411 S_087 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - 0 - - BRWS1 Severe ID, congenital heart defect, cleft lip and palate, epilepsy, behavioural anomalies, dysplastic ears, pre-auricular pit, downslanting palpebral fissures 1 1 Bernt Popp
00146560 - - - F - (Germany) - - 0 - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Renal dysplasia (HP:0000110); Bicuspid aortic valve (HP:0001647) 1 1 IMGAG
00204316 patient PubMed: Johnston 2013 - F - United States - - 0 - - BRWS1 see paper; ... 1 1 Jennifer Johnston
00204317 LP98-085 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - BRWS short stature, no microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, no high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00204318 LP90-050 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - BRWS short stature, microcephaly postnatal; severe intellectual disability; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00204319 - - - - - - - - 0 - - DJO - 1 1 SIB - Livia Famiglietti
00204320 61456 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - BRWS no short stature; seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00204321 58248 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - BRWS see paper; ..., no short stature, no microcephaly postnatal; intellectual disability, no hearing loss, seizures; no trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma 1 1 Johan den Dunnen
00239780 - - - M no Haiti - - 0 - - DD - 1 1 Andreas Janecke
00239781 - - - M no ? (unknown) - - 0 - - DD - 1 1 Andreas Janecke
00269871 - - - M - - - - 0 - - ? Global developmental delay (HP:0001263); Agenesis of corpus callosum (HP:0001274) 1 1 Andreas Laner
00285858 59169 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - BRWS short stature, microcephaly postnatal; intellectual disability, no hearing loss, seizures; no trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00285859 LR04-173 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - BRWS short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00285860 LR09-079 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - BRWS short stature, microcephaly postnatal; intellectual disability, no hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00285861 LR06-298 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - BRWS short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00285862 11-11287 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - BRWS see paper; ..., no short stature, no microcephaly postnatal; intellectual disability, no hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00285863 11-10211 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - BRWS no short stature, microcephaly postnatal; severe intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma 1 1 Johan den Dunnen
00285864 Pat1 PubMed: Di Donato 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - BRWS see paper; ... 1 1 Johan den Dunnen
00285865 Pat2 PubMed: Di Donato 2014 - F no - - - 0 - - BRWS see paper; ... 1 1 Johan den Dunnen
00285866 Pat3 PubMed: Di Donato 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Canada - - 0 - - BRWS trigonocephaly; high arched eyebrows; ptosis; hypertelorism; broad nasal bridge; broad nasal tip, columella; anteverted nostrils; macrostomia; very high and narrow palate; low-set, long, dysplastic ears; low posterior hairline, webbed neck, frontal pachygyria, congenital pterygia axillae and elbows, duplicated halluces, genital anomalies, bilateral hydronephrosis, duplication right collecting system; moderate intelleectual disability, severely impaired speech; 20s-died of severe respiratory failure 1 1 Johan den Dunnen
00285867 PatB11 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285868 PatB17/Pat1 PubMed: Verloes 2015, PubMed: Ramer 1995 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285869 PatB33 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285870 PatB15/case PubMed: Verloes 2015, PubMed: Bitton 2012 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285871 PatB29 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285872 PatB20 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285873 PatB16 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285874 PatB28 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285875 PatB32/case/case PubMed: Verloes 2015, PubMed: Guion-Almeida 1992, PubMed: Guion-Almeida 2001 - F - Brazil - - 0 - - BRWS - 1 1 Johan den Dunnen
00285876 PatB12 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285877 PatB26/twin 1 PubMed: Verloes 2015, PubMed: Gearing 2002, PubMed: Procaccio 2006 2-generation family, affected twins, unaffected heterozygous carrier parents - - United States - - 0 - - BRWS - 1 1 Johan den Dunnen
00285878 PatB27/twin 2 PubMed: Verloes 2015, PubMed: Gearing 2002, PubMed: Procaccio 2006 twin 2 - - United States - - 0 - - BRWS - 1 1 Johan den Dunnen
00285879 PatB1 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285880 PatB18 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285881 PatB19 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285882 PatB30 PubMed: Eker 2014 - - - Turkey - - 0 - - BRWS - 1 1 Johan den Dunnen
00285883 PatB21 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285884 PatB14 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00285885 PatB25 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00302957 Pat2 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Unclassified epilepsy; age onset childhood 1 1 Johan den Dunnen
00306244 - - - F - - - - 0 - - ? Wide mouth (HP:0000154); Microcephaly (HP:0000252); Broad philtrum (HP:0000289); Wide nasal bridge (HP:0000431); Behavioral abnormality (HP:0000708); Delayed speech and language development (HP:0000750); Global developmental delay (HP:0001263) 1 1 IMGAG
00307699 - - - ? - - - - 0 - - ? Horseshoe kidney (HP:0000085); Abnormality of cardiovascular system physiology (HP:0011025); Abnormality of prenatal development or birth (HP:0001197); Tetralogy of Fallot (HP:0001636); Abnormality of the cardiovascular system (HP:0001626); Oral cleft (HP:0000202); Abnormality of the kidney (HP:0000077) 1 1 Andreas Laner
00315030 GDB1239 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - 0 - - ? - 1 1 Johan den Dunnen
00315033 GDB1052 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - 0 - - ? - 1 1 Johan den Dunnen
00331315 13DG1169 PubMed: Maddirevula 2018 isolated case F no - Arab - 0 - - skeletal dysplasia Hip dysplasia, Metopic synostosis, Global developmental delay, Patent ductus arteriosus, Umbi NO 1 1 LOVD
00361585 13DG1169 PubMed: Anazi 2017 simplex case F no Saudi Arabia - - 0 - - ID syndromic; global developmental delay, dysmorphism 1 1 Johan den Dunnen
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