All individuals with variants in gene SH3TC2

91 entries on 1 page. Showing entries 1 - 91.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00016423 - - - F yes Libya - - 0 - - RP;RCD ataxia, retinal dystrophy, neuropathy 1 1 Jill Urquhart
00037079 - - - - - Germany - - 0 - - CMT Charcot-Marie-Tooth disease (CMT) 1 1 Andreas Laner
00037080 - - - - - Germany - - 0 - - ? developmental retardation, autistic features; 1 older sister is also retarded with learning disorder 1 1 Andreas Laner
00037081 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037082 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037083 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037084 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037085 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00144430 - - - M - (Germany) - - 0 - - ? HP:0007178 (Motor polyneuropathy) 1 1 IMGAG
00145074 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145075 - PubMed: Azzedine 2006 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145076 - PubMed: Lupski 2010 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00145077 - PubMed: Lassuthova 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145078 - PubMed: Lassuthova 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145079 - PubMed: Azzedine 2006 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145080 - PubMed: Lassuthova 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145081 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145082 - PubMed: Fischer 2011 - - - - - - 0 - - CMT-1 - 1 1 Johan den Dunnen
00145083 - PubMed: Lupo 2009 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145084 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145085 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145086 - PubMed: Roberts 2010 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145087 - PubMed: Azzedine 2006 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145088 - PubMed: Claramunt 2007 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145089 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145090 - PubMed: Baets 2011 - - - - - - 0 - - HMSN - 1 1 Johan den Dunnen
00145091 - PubMed: Azzedine 2006 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145092 - PubMed: Azzedine 2006 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145093 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145094 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145095 - PubMed: Lupo 2009 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145096 - PubMed: Gooding 2005 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145097 - PubMed: Roberts 2010 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145098 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145099 - PubMed: Senderek 2003 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00145100 - PubMed: Lassuthova 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00207404 111314 - - F yes Turkey - - 0 - - neuropathy, peripheral demyelinating axonal neuropathy 1 1 Andreas Laner
00207578 - - - F no France - 29y 0 - - CMT-4C sensori-motor demyelinating neuropathy in the lower limbs, scoliosis 1 1 Justine Lerat
00207579 - - - F no France - 29y 0 - - CMT sensori-motor demyelinating neuropathy in the lower limbs, scoliosis 2 1 Justine Lerat
00207580 - - - F no France - 68y 0 - - CMT sensori-motor demyelinating neuropathy, scoliosis, hearing loss 2 1 Justine Lerat
00207581 - - - F no France - 71y 0 - - CMT sensori-motor demyelinating neuropathy in the lower limbs, scolisis, hearing loss 2 1 Justine Lerat
00207582 - - - M no France - 83y 0 - - CMT sensori-motor demyelinating neuropathy and hearing loss 1 1 Justine Lerat
00208528 - - - M - Germany - - 0 - - - HP:0000759 (Abnormal peripheral nervous system morphology); HP:0001271 (Polyneuropathy) 1 1 Andreas Laner
00208532 - - - M - Germany - - 0 - - - HP:0040036 (Onychogryposis of fingernail) 1 1 Andreas Laner
00208547 - - - M - Germany - - 0 - - - HP:0001761 (Pes cavus) 1 1 Andreas Laner
00210010 - - - M - Germany - - 0 - - - HP:0002460 (Distal muscle weakness) 1 1 Andreas Laner
00219078 28902413-Pat88 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT4C 2 1 Johan den Dunnen
00219079 28902413-Pat89 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT4C; no family history 1 1 Johan den Dunnen
00219080 28902413-Pat90 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT4C; no family history 2 1 Johan den Dunnen
00219081 28902413-Pat91 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT4C; no family history 2 1 Johan den Dunnen
00219082 28902413-Pat92 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT4C; no family history 2 1 Johan den Dunnen
00219083 28902413-Pat93 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - 0 - - CMT CMT4C 1 1 Johan den Dunnen
00266170 - - - M - - - - 0 - - - Respiratory insufficiency (HP:0002093); Tetraplegia (HP:0002445); Acute demyelinating polyneuropathy (HP:0007131) 2 1 Andreas Laner
00293779 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 47 Mohammed Faruq
00293780 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293781 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 211 Mohammed Faruq
00293782 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00293783 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293784 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293785 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293786 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00293787 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00293788 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00293789 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00295912 - - - M - - - - 0 - - ? Abnormality of the curvature of the vertebral column (HP:0010674); Abnormality of muscle physiology (HP:0011804); Muscle weakness (HP:0001324); Scoliosis (HP:0002650); Abnormal peripheral nervous system morphology (HP:0000759) 1 1 Andreas Laner
00295991 - - - F - - - - 0 - - ? Abnormal peripheral nervous system morphology (HP:0000759); Sensory neuropathy (HP:0000763) 1 1 Andreas Laner
00296562 - - - M - - - - 0 - - ? Mixed demyelinating and axonal polyneuropathy (HP:0007327) 1 1 Andreas Laner
00300027 Pat-SH3TC2-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300028 Pat-SH3TC2-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300029 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300096 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300097 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00300098 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300099 Pat-SH3TC2-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300112 Pat-SH3TC2-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300114 Pat15 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - 1 1 Johan den Dunnen
00300127 Pat16 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00300128 Pat-SH3TC2-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300134 Pat-SH3TC2-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300144 Pat-SH3TC2-c PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300153 Pat-SH3TC2-d PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300157 Pat-SH3TC2-e PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300160 Pat-SH3TC2-f PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300161 Pat-SH3TC2-g PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300162 Pat-SH3TC2-h PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300163 Pat-SH3TC2-i PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300164 Pat-SH3TC2-j PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300165 Pat-SH3TC2-k PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300166 Pat-SH3TC2-l PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300167 Pat-SH3TC2-m PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00305018 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
Legend