All individuals with variants in gene GNE

368 entries on 4 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

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Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00056065 - - - F - Canada - - 0 - - MPD myopathy, distal 2 1 Tom Winder
00056066 - - - F - United States - - 0 - - IBM-2 - 2 1 Tom Winder
00056067 - PubMed: Wilcken 1987 - F - Finland - - 0 - - sialuria moderate developmental delay, hepatosplenomegaly, slightly coarse facial features, large tongue, macrocephaly, massive urinary excretion free sialic acid; 7y-mild intellectual impairment (attends regular school), fine-motor difficulty, growth 10th percentile, organomegaly persistent 1 1 Johan den Dunnen
00056068 - PubMed: Krasnewich 1993 - - - Finland - - 0 - - sialuria hepatomegaly, dysmorphic facies, hirsutism, normal growth; 6y-IQ68; 1 1 Johan den Dunnen
00056069 - PubMed: Weiss 1989 - M - Finland - - 0 - - sialuria hepatomegaly, coarse voice, facial features; 5y-growth/development normal; 1 1 Johan den Dunnen
00056070 - - - F - Portugal - >7y6m 0 - - sialuria sialuria 1 1 Johan den Dunnen
00056071 - - 3-generation family, 6 affecteds (4F, 2M) - - Iran Jewish - 0 - - IBM-2 - 2 6 Johan den Dunnen
00056072 - - 49 families, 118 affecteds - - - Middle East, Jewish - 0 - - IBM-2 - 2 118 Johan den Dunnen
00056073 - - - - - Iran Jewish - 0 - - Healthy/Control - 1 5 Johan den Dunnen
00056074 - - 2-generation family, 4 affecteds (2F, 2M) - - Bahamas - - 0 - - IBM-2 - 2 5 Johan den Dunnen
00056075 - - 2-generation family, 4 affecteds (3F, M) - - United States - - 0 - - IBM-2 - 2 5 Johan den Dunnen
00056076 - - 2-generation family, 2 affecteds (F, M) - - India - - 0 - - IBM-2 rimmed vacuoles, inclusion bodies; 2 3 Johan den Dunnen
00056077 - - - - - Iraq jewish - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056078 - - - - - Afghanistan jewish - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056079 - - - - - Uzbekistan jewish - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056080 - - - - - Egypt jewish - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056081 - - - - - - Middle East, Kurdish - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056082 - - family, 3 affecteds - - - Middle East, Bedouin - 0 - - IBM-2 - 2 3 Johan den Dunnen
00056083 - - family, 2 affecteds - - Palestine Middle East, Palestinian - 0 - - IBM-2 - 2 3 Johan den Dunnen
00056084 - - - - - United States - - 0 - - IBM-2 rimmed vacuoles, inclusion bodies; 2 2 Johan den Dunnen
00056085 - - - - - United States - - 0 - - IBM-2 rimmed vacuoles; 2 2 Johan den Dunnen
00056086 - - family, 2 affecteds - - Germany - - 0 - - IBM-2 rimmed vacuoles; 2 3 Johan den Dunnen
00056087 - - - - - Italy - - 0 - - IBM-2 rimmed vacuoles, lobulated fibers; 2 2 Johan den Dunnen
00056088 - - - - - Italy - - 0 - - IBM-2 rimmed vacuoles, inclusion bodies; 2 2 Johan den Dunnen
00056089 - - family, 2 affecteds - - Ireland - - 0 - - IBM-2 lobulated fibers (quadriceps only); 2 3 Johan den Dunnen
00056090 - - 2-generation family, 2 affected males M - Japan - >33y 0 - - NM;IBM-2 myopathy, Nonaka; 2 2 Johan den Dunnen
00056091 - - - M - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka; moderate proximal weakness L/E, quadriceps involvement, atrophy hand muscles; 2 2 Johan den Dunnen
00056092 - - - F - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka, typical; 2 2 Johan den Dunnen
00056093 - - - M - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka, typical; 2 2 Johan den Dunnen
00056094 - - - F - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka, typical; 2 2 Johan den Dunnen
00056095 - - - F - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka, typical; 2 2 Johan den Dunnen
00056096 - - - F - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka, typical; 2 2 Johan den Dunnen
00056097 - - - M - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka; late onset, slowly progressive; 2 2 Johan den Dunnen
00056098 - - - M - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka, typical; 2 2 Johan den Dunnen
00056099 - - 2-generation family, 2 affected males M - Japan - >32y 0 - - NM;IBM-2 myopathy, Nonaka; 2 2 Johan den Dunnen
00056100 - - patient and carrier mother (raised urine creatinine) M - United States - - 0 - - sialuria sialuria; 1 2 Johan den Dunnen
00056101 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; mild proximal weakness L/E, no quadriceps involvement; 2 1 Johan den Dunnen
00056102 - - 2-generation family, 2 affected females F - United States - - 0 - - IBM-2 - 2 2 Johan den Dunnen
00056103 - PubMed: Gotlieb 2005 2-generation family, affected female, unaffected carrier parents; 16112887-Pat29 F - United States - - 0 - - IBM-2 28y-walk crutches, lost ability walk >28y 2 2 Johan den Dunnen
00056104 - - 2-generation family, 1 affected ? - (United States) Iran, non-Jewish - 0 - - IBM-2 - 2 2 Johan den Dunnen
00056105 - - 2-generation family, 1 affected ? - (United States) Iran, non-Jewish - 0 - - IBM-2 - 2 2 Johan den Dunnen
00056106 - PubMed: Gotlieb 2005 2-generation family, 2 affecteds (F, M) ? - United States Jewish >38y 0 - - IBM-2 myopathy, inclusion body, type 1, quadriceps sparing; lost ability walk 35y 2 3 Johan den Dunnen
00056107 - - 4-generation family, 2 affected females F - Italy - - 0 - - IBM-2 myopathy, inclusion body, type 1, quadriceps sparing; 2 2 Johan den Dunnen
00056108 - - 5 clinically unaffected cases (5 families) - - - Middle East, Jewish - 0 - - Healthy/Control - 2 5 Johan den Dunnen
00056109 - - 4-generation family, 2 affected females F - Italy - - 0 - - IBM-2 - 2 2 Johan den Dunnen
00056110 - - 2-generation family, 2 affected females F - Italy - >33y 0 - - IBM-2 - 2 2 Johan den Dunnen
00056111 - - 2-generation family, 2 affected females F - Italy - >28y 0 - - IBM-2 - 2 1 Johan den Dunnen
00056112 - - 2-generation family, 2 affected males M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; 2 2 Johan den Dunnen
00056113 - - 2-generation family, 2 affected males M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; 2 1 Johan den Dunnen
00056114 - - family, 2 siblings ? - Netherlands - - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056115 - - family, 2 siblings ? - Netherlands - - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056116 - - - M yes Iran - >34y 0 - - IBM-2 myopathy, inclusion body, type 1, quadriceps sparing; 2 1 Johan den Dunnen
00056117 - - - M - Japan - >42y 0 - - MPD myopathy, distal, rimmed vacuoles; 2 1 Johan den Dunnen
00056118 - - - F - United States - - 0 - - IBM-2 myopathy, inclusion body, type 1, quadriceps sparing; 2 1 Johan den Dunnen
00056119 - - - F - India Asian - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056120 - - - F - India - - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056121 - - - F - Greece - - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056122 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; 2 1 Johan den Dunnen
00056123 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 581 2 1 Johan den Dunnen
00056124 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 511 2 1 Johan den Dunnen
00056125 - - sib of 15136692-Pat05 F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 259 2 1 Johan den Dunnen
00056126 - - sib of 15136692-Pat04 F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 233 2 1 Johan den Dunnen
00056127 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 214 2 1 Johan den Dunnen
00056128 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; very rapid progression; CPK 647 2 1 Johan den Dunnen
00056129 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; quadriceps weakness; CPK 533 2 1 Johan den Dunnen
00056130 - - - M - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka; CPK 2281 2 1 Johan den Dunnen
00056131 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 359 2 1 Johan den Dunnen
00056132 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 480 2 1 Johan den Dunnen
00056133 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 1100 2 1 Johan den Dunnen
00056134 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 269 2 1 Johan den Dunnen
00056135 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; very slow progression; CPK 367 2 1 Johan den Dunnen
00056136 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 1121 2 1 Johan den Dunnen
00056137 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 145 2 1 Johan den Dunnen
00056138 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 248 2 1 Johan den Dunnen
00056139 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 1310 2 1 Johan den Dunnen
00056140 - - - M - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 1620 2 1 Johan den Dunnen
00056141 - - - F - Japan - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 811 2 1 Johan den Dunnen
00056142 - - - M - Japan - - 0 - - MYOP myopathy, proximal dominant; CPK 811 2 1 Johan den Dunnen
00056143 - - - M - Italy - >55y 0 - - IBM-2 - 2 1 Johan den Dunnen
00056144 - - - F - Italy - >48y 0 - - IBM-2 - 2 1 Johan den Dunnen
00056145 - - - F - Italy - >42y 0 - - IBM-2 - 2 1 Johan den Dunnen
00056146 - - - M - Italy - >18y 0 - - IBM-2 - 2 1 Johan den Dunnen
00056147 - - - F - Italy - >25y 0 - - IBM-2 - 2 1 Johan den Dunnen
00056148 - - - F - Italy - >49y 0 - - IBM-2 - 2 1 Johan den Dunnen
00056149 - - - F - Italy - >37y 0 - - IBM-2 - 2 1 Johan den Dunnen
00056150 - - - F - Italy - >34y 0 - - IBM-2 - 2 1 Johan den Dunnen
00056151 - - 4-generation family, 4 affecteds M - Tunisia - - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056152 - - 4-generation family, 4 affecteds F - Tunisia - - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056153 - - 4-generation family, 4 affecteds M - Tunisia - - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056154 - - 4-generation family, 4 affecteds M - Tunisia - - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056155 - - 4-generation family, 4 affecteds F - Tunisia Tunisian - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056156 - - 4-generation family, 4 affecteds F - Tunisia Tunisian - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056157 - - 4-generation family, 4 affecteds F - Tunisia Tunisian - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056158 - - 4-generation family, 4 affecteds M - Tunisia Tunisian - 0 - - IBM-2 - 2 1 Johan den Dunnen
00056159 - - 3-generation family, 2 affecteds M - China - - 0 - - MPD myopathy, distal, rimmed vacuoles; 2 2 Johan den Dunnen
00056160 - - 3-generation family, 2 affecteds F - China - - 0 - - MPD myopathy, distal, rimmed vacuoles; 2 1 Johan den Dunnen
00056161 - - - F - Korea - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 275 2 1 Johan den Dunnen
00056162 - - - F - Korea - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 413 2 1 Johan den Dunnen
00056163 - - - F - Korea - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 352 2 1 Johan den Dunnen
00056164 - - - F - Korea - - 0 - - MPD myopathy, distal, rimmed vacuoles; CPK 222 2 1 Johan den Dunnen
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