All individuals with variants in gene FIG4

49 entries on 1 page. Showing entries 1 - 49.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
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) 1 1 Yu Sun
00035827 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035828 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035829 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035830 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035831 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035832 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035833 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035834 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035835 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00081290 - - - - - Germany - - 0 - - CMT-4J - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00100259 Rf1875-2.2 PubMed: van den Boogaard 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - 0 - IVIG ICF-2 see paper; ... 1 1 Marlinde L. van den Boogaard
00147119 - - - M - (Germany) - - 0 - - ? HP:0003198 (Myopathy), HP:0007327 (Mixed demyelinating and axonal polyneuropathy) 2 1 IMGAG
00151837 - PubMed: Chow 2007 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151838 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151839 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151840 - PubMed: Chow 2009 - - - - - - 0 - - ALS - 1 1 Johan den Dunnen
00151841 - PubMed: Chow 2009 - - - - - - 0 - - ALS - 1 1 Johan den Dunnen
00151842 - PubMed: Chow 2007 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151843 - PubMed: Chow 2009 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00151844 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151845 - PubMed: Chow 2009 - - - - - - 0 - - ALS - 1 1 Johan den Dunnen
00151846 - PubMed: Chow 2009 - - - - - - 0 - - ALS - 1 1 Johan den Dunnen
00151847 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151848 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151849 - PubMed: Chow 2009 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00151850 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151851 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151852 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151853 - PubMed: Chow 2009 - - - - - - 0 - - - - 1 1 Johan den Dunnen
00151854 - PubMed: Chow 2007 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151855 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151856 - PubMed: Chow 2007 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151857 - PubMed: Chow 2007 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151858 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00151859 - PubMed: Nicholson 2011 - - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00177014 72555 PubMed: Abela 2016 3-generation family, affected twin brothers, unaffected heterozygous carrier mother M no Italy - - 0 - - EE HP:0001252 HP:0002509 HP:0001266 HP:0000219 HP:0002705 HP:000319 HP:0000286 HP:0000494 HP:0000508 HP:0011359 HP:0100798 1 2 Anaïs Begemann
00219053 28902413-Pat63 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT4J; no family history 2 1 Johan den Dunnen
00219054 28902413-Pat64 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT4J 2 1 Johan den Dunnen
00293954 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00296549 - - - M - - - - 0 - - ? Muscular hypotonia (HP:0001252); Distal muscle weakness (HP:0002460) 1 1 Andreas Laner
00299988 Pat-FIG4-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00299989 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00300046 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300047 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300130 Pat-FIG4-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300139 Pat-FIG4-c PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00300149 Pat-FIG4-d PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT-2 - 1 1 Johan den Dunnen
00324468 173204 - - F ? Germany - - 0 - - ALS-11 (+) Abnormality of the nervous system,(+) Abnormality of the peripheral nervous system 1 1 Andreas Laner
Legend   How to query