All individuals with variants in gene ACTG1

64 entries on 1 page. Showing entries 1 - 64.
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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) 5 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) 2 1 Yu Sun
00059130 - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - 0 - - DFNB;ARNSHL - 1 1 Manou Sommen
00080050 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00117275 S1572 PubMed: Baux 2017, Journal: Baux 2017 Proband F no France - - 0 - - deafness - 1 1 David Baux
00204325 - - - - - - - - 0 - - DFNA20;DFNA26 - 1 1 SIB - Livia Famiglietti
00204326 - - - - - - - - 0 - - DFNA20;DFNA26 - 1 1 SIB - Livia Famiglietti
00204327 - - - - - - - - 0 - - DFNA20;DFNA26 - 1 1 SIB - Livia Famiglietti
00204328 61458 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - BRWS2 no short stature, no microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 SIB - Livia Famiglietti
00204329 - - - - - - - - 0 - - DFNA20;DFNA26 - 1 1 SIB - Livia Famiglietti
00204330 LR06-241 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, no hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly 1 1 SIB - Livia Famiglietti
00204331 LR04-298 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - BRWS no short stature, no microcephaly postnatal; seizures; trigonocephaly, hypertelorism, congenital ptosis; pachygyria only anterior greater than posterior lissencephaly 1 1 SIB - Livia Famiglietti
00204332 58431 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - BRWS see paper;..., no short stature, no microcephaly postnatal; hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 SIB - Livia Famiglietti
00204333 - - - - - - - - 0 - - DFNA20;DFNA26 - 1 1 SIB - Livia Famiglietti
00204334 LR03-033 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - BRWS no short stature, microcephaly postnatal; intellectual disability, hearing loss, no seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria only anterior greater than posterior lissencephaly 1 1 SIB - Livia Famiglietti
00204335 LP92-083 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - BRWS see paper; ..., short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly 1 1 SIB - Livia Famiglietti
00204336 - - - - - - - - 0 - - DFNA20;DFNA26 - 1 1 SIB - Livia Famiglietti
00204337 - - - - - - - - 0 - - DFNA20;DFNA26 - 1 1 SIB - Livia Famiglietti
00204338 - - - - - - - - 0 - - DFNA20;DFNA26 - 1 1 SIB - Livia Famiglietti
00204339 - - - - - - - - 0 - - DFNA20;DFNA26 - 1 1 SIB - Livia Famiglietti
00267235 Pat1 PubMed: Chacon-Camacho 2020, Journal: Chacon-Camacho 2020 - M no Mexico - - 0 - - BRWS see paper; ... 1 1 Oscar F Chacon-Camacho
00267236 Pat2 PubMed: Chacon-Camacho 2020, Journal: Chacon-Camacho 2020 - M no Mexico Mexican 06y 0 - - BRWS see paper; ... 1 1 Oscar F Chacon-Camacho
00285150 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285152 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285154 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285155 - PubMed: Park 2013 - - - - - - 0 - - HL - 1 1 Global Variome, with Curator vacancy
00285156 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285157 - PubMed: Miyagawa 2013 - - - - - - 0 - - deafness - 1 1 Global Variome, with Curator vacancy
00285158 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285160 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285161 - PubMed: Mutai 2013 - - - - - - 0 - - HL - 1 1 Global Variome, with Curator vacancy
00285166 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285168 - PubMed: Richards 2008 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00285169 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285170 - PubMed: Baek 2012 - - - - - - 0 - - HL - 1 1 Global Variome, with Curator vacancy
00285171 - PubMed: Duzkale 2013, PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285172 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285173 - PubMed: Richards 2008 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285174 - PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285175 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285176 - PubMed: Miyagawa 2013 - - - - - - 0 - - deafness - 1 1 Global Variome, with Curator vacancy
00285178 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285179 - PubMed: Duzkale 2013, PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285181 - PubMed: Liu 2008 - - - - - - 0 - - deafness - 1 1 Global Variome, with Curator vacancy
00285182 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285186 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285188 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285189 - - - - - - - - 0 - - deafness hearing loss (HL), non-syndromic 1 1 Global Variome, with Curator vacancy
00285190 - PubMed: Duzkale 2013 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285191 - PubMed: de Heer 2009 - - - - - - 0 - - deafness - 1 1 Global Variome, with Curator vacancy
00285192 - PubMed: Richards 2015 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00285854 FamPat1 PubMed: Vandervore 2019 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no Netherlands - - 0 - - CRS see paper; ..., neonatal microcephaly, agenesis corpus callosum, brachycephaly with reduced volume posterior fossa, cerebellar and pons hypoplasia, scoliosis, tethered cord (closed neural tube defect) 1 2 Johan den Dunnen
00285856 LP98-096 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - England - - 0 - - BRWS short stature, microcephaly postnatal; intellectual disability, o hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly 1 1 Johan den Dunnen
00285857 11-10857 PubMed: Rivière 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - BRWS seizures; hypertelorism, high-arched eyebrows, congenital ptosis; coloboma 1 1 Johan den Dunnen
00285886 PatA4 PubMed: Verloes 2015 - - - - - - 0 - - BRWS - 1 1 Johan den Dunnen
00287104 LP98-111a2 PubMed: di Donato, 2016 - M - - - - 0 - - BRWS2 - 1 1 Camille Cenni
00287170 - PubMed: Lee, 2018 - M no Korea - - 0 - - DFNA20;DFNA26 severe to profound bilateral deafness and cleft lip and palate 1 2 Camille Cenni
00287173 IV1 PubMed: Wang, 2018 4 generation family with 10 affected individuals F no China - - 0 - - DFNA20;DFNA26 moderate hearing loss downward slope into higher frequencies with a gradual worsening over time affecting all frequencies 1 10 Camille Cenni
00288259 S840:II.1 PubMed: Morín et al, 2009 - F no - - - 0 - - DFNA20;DFNA26 bilateral, symmetrical and progressive sensorineural hearing loss at mid- and high frequencies (a down-sloping audiometric profile) of post-lingual onset (third decade) 1 2 Camille Cenni
00288260 S582:II.3 PubMed: Morín, 2009 - F no - - - 0 - - DFNA20;DFNA26 post-lingual, bilateral, symmetrical and progressive sensorineural hearing impairment that affect the mid- and high frequencies. hearing problems at school age. 1 4 Camille Cenni
00289370 W99-060; IV:7 PubMed: van Wijk 2003 - M no Germany - - 0 - - DFNA20;DFNA26 Before they were 15 years old, the patients had already shown gently downsloping audiograms. By ages 15 to 20 and 25 to 40 years, hearing loss had become severe to profound at 8 kHz and 1 to 4 kHz, respectively. The thresholds at 0.25 to 0.5 kHz showed more gradual progression at an average increase of about 1.5 to 2 dB/y. 1 19 Camille Cenni
00327082 - - - - - - - - - - - DFNA1 - 1 1 So Young Kim
00395564 RP-0270 PubMed: Perea-Romero 2021 - - - Spain - - 0 - - retinal disease posterior polar cataract, rod-cone dystrophy, strabismus, congenital sensorineural hearing impairment, delayed speech and language development, global developmental delay, mild intellectual disability 1 1 LOVD
00419683 194981 - - M no Germany - - 0 - - BRWS2 Global developmental delay 1 1 Andreas Laner
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