All individuals with variants in gene PLEKHG5

29 entries on 1 page. Showing entries 1 - 29.
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00289905 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 94 Mohammed Faruq
00289906 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 7 Mohammed Faruq
00289908 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00295243 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00295745 - - - M - - - - - - - ? Skeletal muscle atrophy (HP:0003202) 1 1 Andreas Laner
00374810 R-0612 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00399044 P103 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK normal; muscle biopsy neurogenic pattern 2 1 Johan den Dunnen
00404900 patient PubMed: Beijer 2022, Journal: Beijer 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States India - - - - CMT see paper; ..., distal intermediate neuropathy, scapular winging; 16y-progressive lower limb weakness, altered gait, atrophy of limbs (distal more than proximal), pes cavus, hammer toes; 17y-difficulties in running and walking fast, pressure-induced sensory symptoms extremities 1 1 Johan den Dunnen
00404901 family PubMed: Maystadt 2006, PubMed: Maystadt 2007 2-generation family, 5 affected/6 healthy children age 25y-9y, unaffected heterozygous carrier parents F;M yes Mali - - - - - CMT see paper; ... 1 5 Johan den Dunnen
00404902 Fam221Pat221.13 PubMed: Azzedine 2013 3-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Portugal - - - - - CMT see paper; ..., distal weakness, distal muscle atrophy, involvement of proximal muscles, pes cavus, hammer toes, abnormal walking only with simple canes, distal sensory loss, spine deformity, deep tendon areflexia 1 2 Johan den Dunnen
00404903 Fam221Pat221.17 PubMed: Azzedine 2013 sister F yes Portugal - - - - - CMT see paper; ..., distal weakness, no distal muscle atrophy, no involvement of proximal muscles, pes cavus, normal walking, running and jumping impossible, distal sensory loss, spine deformity, lower extremities deep tendon areflexia 1 1 Johan den Dunnen
00404904 FamNP72Pat4 PubMed: Azzedine 2013 2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents/relatives M - Morocco - - - - - CMT see paper; ..., distal weakness, distal muscle atrophy, no involvement of proximal muscles, pes cavus, hammer toes, abnormal walking without help, distal sensory loss, no spine deformity, deep tendon areflexia 1 4 Johan den Dunnen
00404905 FamNP72Pat5 PubMed: Azzedine 2013 sister F - Morocco - - - - - CMT see paper; ..., distal weakness, distal muscle atrophy, involvement of proximal muscles, pes cavus, hammer toes, wheelchair-bound, distal sensory loss, no spine deformity, deep tendon areflexia 1 1 Johan den Dunnen
00404906 FamNP72Pat9 PubMed: Azzedine 2013 brother M yes Morocco - - - - - CMT see paper; ..., distal weakness, distal muscle atrophy, involvement of proximal muscles, pes cavus, hammer toes, abnormal walking only with simple canes, no spine deformity, deep tendon areflexia 1 1 Johan den Dunnen
00404907 patient PubMed: Kim 2013 3-generation family, 1 affected, unaffected heterozygous carrier parents/relative F no Korea - - - - - CMT see paper; ... 2 1 Johan den Dunnen
00404908 PLEKHG5#1 PubMed: Ozoguz 2015 - M - Turkey - - - - - ALS lower motor neuron dominance 1 1 Johan den Dunnen
00404910 Fam1Pat1 PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Iran - - - - - CMT mild sensory loss distal LL; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no clinical cortical involvement; moderately reduced motor nerve conduction velocity, preserved sensory nerve action potential; EMG chronic process with active denervation; MRI brain white matter changes; MRI lower limb moderate fatty infiltration 1 1 Johan den Dunnen
00404911 Fam2Pat2 PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Iran - - - - - CMT no sensory loss; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; lumbar hyperlordosis; no repiratory dysfunction; no cardiac involvement; no cortical involvement; reduced combined motor action potential, preserved sensory nerve action potential; EMG chronic neurogenic changes; MRI brain normal; MRI lower limb severe atrophy, fatty infiltration 1 1 Johan den Dunnen
00404912 Fam3Pat3 PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - CMT no sensory loss; areflexia; generalised muscle weakness; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; prolonged distal motor latencies and reduced combined motor action potentials; EMG chronic neurogenic changes; quadriceps neurogenic muscle atrophy; 1 1 Johan den Dunnen
00404913 Fam4Pat4/5/6 PubMed: Chen 2021 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F;M - Turkey - - - - - CMT sensory loss distal UL/LL; areflexia; generalised muscle weakness; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; moderately reduced motor nerve conduction velocity, combined motor action potential; EMG chronic neurogenic changes; 1 3 Johan den Dunnen
00404914 Fam5Pat7/8 PubMed: Chen 2021 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Turkey - - - - - CMT no sensory loss; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; motor neuropathy, reduced combined motor action potentials; EMG chronic neurogenic changes; 1 2 Johan den Dunnen
00404915 Fam6Pat9/10 PubMed: Chen 2021 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Turkey - - - - - CMT no sensory loss; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; lumbar hyperlordosis; no repiratory dysfunction; no cardiac involvement; no cortical involvement; motor neuropathy; EMG chronic neurogenic changes; quadriceps neurogenic muscle atrophy; 1 2 Johan den Dunnen
00404916 Fam7Pat11 PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Syria - - - - - CMT no sensory loss; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; NCS normal; EMG chronic neurogenic changes; 1 1 Johan den Dunnen
00404917 Fam8Pat12 PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India - - - - - CMT no sensory loss; areflexia; muscle weakness distal > proximal; no cranial nerve involvement; pes cavus, hammer toes, equino-cavo-varus; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; motor and sensory neuropathy; EMG neurogenic pattern; quadriceps neurogenic muscle atrophy; 1 1 Johan den Dunnen
00404918 Fam9Pat13 PubMed: Chen 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India - - - - - CMT moderate sensory loss distal UL/LL; areflexia; generalised muscle weakness; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; motor and sensory neuropathy; 1 1 Johan den Dunnen
00404926 Fam8 PubMed: Sharifi 2021 analysis 432 SMA families; 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - SMA - 1 1 Johan den Dunnen
00404935 patient PubMed: Miao 2021 - F - China - - - - - CMT see paper; ..., early childhood weakness and wasting all limbs starting; EMG neurogenic pattern; subclinical sensory neuropathy; hypomyelination, hypermyelination, infolding myelin membranes coiled into myelinated axo. 2 1 Johan den Dunnen
00404936 Fam1PatIII4/5 PubMed: Villar-Quiles 2021 3-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M no Viet Nam - - - - - CMT see paper; ... 2 2 Johan den Dunnen
00404937 Fam2PatII4/6 PubMed: Villar-Quiles 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes Cote D'Ivoire (Ivory Coast) - - - - - CMT see paper; ... 1 2 Johan den Dunnen
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