All individuals with variants in gene GANC

13 entries on 1 page. Showing entries 1 - 13.
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     
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
00174768 Pat7;PatB9 PubMed: Fichna 2018, PubMed: Macias 2021 - F - Poland - - - - - LGMD onset overt symptoms childhood; CPK raised 7x; limb-girdle weakness, ambulation preserved 1 1 Johan den Dunnen
00174785 Pat19;PatA2 PubMed: Fichna 2018, PubMed: Macias 2021 - M - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 7x; waddling gait from adolescence; myalgia and progression of lower limb weakness after upper respiratory tract infection in 8th decade; cardiac arrhythmias; diffuse muscle atrophy, hyperlordosis; waddling gait 1 1 Johan den Dunnen
00174793 Pat179;A4 PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 6x; progressive limb-girdle weakness; neck extensor weakness; ambulation with assistance 1 2 Johan den Dunnen
00174794 Pat214;A5(II1) PubMed: Fichna 2018, PubMed: Macias 2021 2-eneration family, affected sister/brother F - Poland - - - - - LGMD onset overt symptoms adulthood; CPK raised 22x; progressive limb-girdle weakness; diffuse muscle atrophy; waddling gait 1 2 Johan den Dunnen
00174795 Pat191;A6(II2) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 3 affected sibs (F, 2M) M - Poland - - - - - LGMD onset overt symptoms adulthood; CPK raised 1.5x; asymmetrical upper limb onset; scapular winging, shoulder girdle muscle atrophy, calf hypertrophy; waddling gait 1 3 Johan den Dunnen
00174797 Pat752;A10 PubMed: Fichna 2018, PubMed: Macias 2021 - F - Poland - - - - - LGMD onset overt symptoms adulthood; CPK raised 2.5x; progressive limb-girdle weakness; ambulation preserved 1 1 Johan den Dunnen
00174799 Pat250a;A8(II3) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Poland - - - - - LGMD onset overt symptoms adulthood; CPK raised 12x; upper limb predominant involvement; muscle hypertrophy, scapular winging; ambulation preserved 1 2 Johan den Dunnen
00174807 Pat195;B6 PubMed: Fichna 2018, PubMed: Macias 2021 - M - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 47x; limb-girdle weakness with severe muscle atrophy, significant contractures in lower limbs; ambulation preserved 2 1 Johan den Dunnen
00174808 Pat14;B14(II1) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - LGMD CPK raised 80x; asymptomatic hyper-CKmia 1 1 Johan den Dunnen
00174810 Pat9:B1(II2) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - LGMD onset overt symptoms early childhood; CPK raised 9x; toe walking; significant contractures in lower limbs; ambulation preserved 1 1 Johan den Dunnen
00174818 Pat667;B2(II1) PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - LGMD onset overt symptoms childhood; CPK raised 15x; slowly progressive limb-girdle weakness; myalgia; in lower limbs also distal weakness; ambulation preserved; muscle biopsy: non-specific myopathic changes , many fibers with centrally located nuclei 1 1 Johan den Dunnen
00396059 C2 PubMed: Macias 2021 - F - Poland - - - - - LGMD childhood onset, progressive limb–girdle weakness; waddling gait, no muscle hypertrophy; wheelchair bound in 3rd decade 2 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.