All individuals with variants in gene GARS

77 entries on 1 page. Showing entries 1 - 77.
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00035904 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035905 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035906 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035907 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035908 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035909 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035910 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035911 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035912 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035913 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035914 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035915 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035916 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035917 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035918 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035919 - - - - - Germany - - - - - ? distal und rechtsbetonte Paresen, atrophy of upper limbs, family history negative 1 1 Andreas Laner
00035920 - - - - - Germany - - - - - ? generalised epilepsy with febrile seizure plus, komplexe Partialanfälle, mental retardation, learning disorder 1 1 Andreas Laner
00035921 - - - - - Germany - - - - - ? CMT2D 1 1 Andreas Laner
00035922 - - - - - Germany - - - - - ? Isolierte rein motorische Peroneuslähmung bds., Suralis-NLG normal MGZ 67710 1 1 Andreas Laner
00035923 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00050382 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intrauterine growth retardation, proportionate short stature, clinodactyly of the 5th finger, webbed neck, epicanthus, intellectual disability mild 1 1 Johan den Dunnen
00205492 - PubMed: Abe 2009, OMIM:var0006 - - - Japan - - - - - CMT - 1 1 Johan den Dunnen
00205493 - PubMed: Sivakumar 2005 - - - Bulgaria - - - - - Healthy/Control multi-generation family, 3-generation branch with 3 unaffected carriers (grandfather, daugther, granddaugther) 1 3 Johan den Dunnen
00205494 - PubMed: Sivakumar 2005 - - - Bulgaria - - - - - HMN multi-generation family, 21 affecteds, 5 tested, branch with unaffected carriers 1 21 Johan den Dunnen
00205495 - PubMed: Antonellis 2003, OMIM:var0001 - - - United States - - - - - CMT 3-generation family, 3 affecteds 1 3 Johan den Dunnen
00205496 - PubMed: Sivakumar 2005 - - - United States - - - - - CMT multi-generation family, 14 affecteds, 8 tested 1 14 Johan den Dunnen
00205497 - PubMed: James 2006 - - - United Kingdom (Great Britain) - - - - - HMN 4-generation family, affected mother, father, grandfather, 2 siblings 1 5 Johan den Dunnen
00205498 Fam PubMed: Sivakumar 2005 multi-generation family, 8 affecteds, 13 unaffected carriers - - Australia;United Kingdom (Great Britain) - - - - - HMN - 1 8 Johan den Dunnen
00205499 - PubMed: Del Bo 2006 - - - Italy - - - - - ? 3-generation family, 5 affecteds, 1 unaffected carrier (young) 1 6 Johan den Dunnen
00205500 - PubMed: Sivakumar 2005 - - - France Jewish-Sephardic - - - - HMN 4-generation family, 6 affecteds 1 6 Johan den Dunnen
00205501 - PubMed: James 2006 - - - United Kingdom (Great Britain) - - - - - CMT 4-generation family, several affecteds 1 3 Johan den Dunnen
00205502 - PubMed: James 2006 - - - United Kingdom (Great Britain) - - - - - HMN 2-generation family, non-carrier parents 1 1 Johan den Dunnen
00205503 - PubMed: Rohkamm 2007 - - - Ghana - - - - - HMN - 1 1 Johan den Dunnen
00205504 - PubMed: Sivakumar 2005 - - - Mongolia - - - - - HMN multi-generation family, 17 affecteds, 17 tested 1 11 Johan den Dunnen
00205505 - PubMed: Sivakumar 2005 - - - Mongolia - - - - - CMT multi-generation family, 17 affecteds, 17 tested 1 6 Johan den Dunnen
00205506 - PubMed: Abe 2009 - - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00205507 - PubMed: Abe 2009 - - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00205508 - PubMed: Abe 2009 - - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00205509 - PubMed: Abe 2009 - - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00205510 - PubMed: Abe 2009 - - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00205511 - PubMed: Abe 2009 - - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00205512 - PubMed: Abe 2009 - - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00205513 - PubMed: Abe 2009 - - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00205514 - PubMed: Abe 2009 - - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00205515 - PubMed: Abe 2009 - - - Japan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00263912 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00289289 - - - F - - - - - - - ? Demyelinating peripheral neuropathy (HP:0007108); Gait disturbance (HP:0001288) 1 1 Andreas Laner
00294425 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 79 Mohammed Faruq
00294426 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 15 Mohammed Faruq
00294427 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294428 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00294429 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 77 Mohammed Faruq
00296522 Pat2 PubMed: Forrester 2020 - - - - - - - - - neuropathy severe muscle weakness, slightly more marked in lower limbs and distally; ventilator-dependent; needle EMG widespread and severe neurogenic changes; nerve conduction study severe reduction compound muscle action potential, slowing motor conduction velocity, normal sensory nerve action potential 1 1 Johan den Dunnen
00296523 Pat1 PubMed: Forrester 2020 2-generation family, patient with affected heterozygous carrier daugther - - - - - - - - neuropathy distal weakness/wasting upper and lower limbs 1 2 Johan den Dunnen
00296524 Pat7 PubMed: Forrester 2020 patient and affected heterozygous carrier grand daughter - - - - - - - - neuropathy eeakness in fingers, brisk deep tendon reflexes in upper limbs/knee; wasting in feet, asymmetric foot deformity, tiptoeing in childhood 1 1 Johan den Dunnen
00296525 Pat8 PubMed: Forrester 2020 - - - - - - - - - neuropathy numbness in both hands; foot drop, wasting of tibialis anterior, weakness foot dorsiflexion; nerve conduction study prolonged distal motor latency, prolonged F waves, small motor responses common peroneal and posterior tibial nerves, mildly reduced conduction velocities common peroneal nerve, low normal or slightly small sensory nerve action potential 1 1 Johan den Dunnen
00296530 GARS PubMed: Farwell 2015 - - - - - - - - - ? - 1 1 Johan den Dunnen
00296547 FamPatIII1/Pat3 PubMed: Boczonadi 2018, PubMed: Forrester 2020 3-generation family, affected grandmother, mother and son M - - - - - - - neuropathy typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties; upper limbs dorsal interosseous muscle atrophy, weak thumb/index finger; lower limbs ankle dorsi and plantar flexion weakness 1 3 Johan den Dunnen
00296553 Fam1PatII1 PubMed: Boczonadi 2018 mother F - - - - - - - neuropathy typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties 1 1 Johan den Dunnen
00296554 Fam/Fam2PatII1 PubMed: McMillan 2014, PubMed: Boczonadi 2018 2-generation family, affected female and heterozygous carrier parents F - Canada - - - - - neuropathy see paper; ..., 6y-developed non-compaction cardiomyopathy, exercise induced myalgia; white matter changes, increased lactate 2 3 Johan den Dunnen
00296555 Fam/Fam2father PubMed: McMillan 2014, PubMed: Boczonadi 2018 father M - Canada - - - - - neuropathy bilateral talipes, mild axonal neuropathy 1 1 Johan den Dunnen
00296556 Fam2mother PubMed: McMillan 2014, PubMed: Boczonadi 2018 mother F - Canada - - - - - Healthy/Control - 1 1 Johan den Dunnen
00296557 GARS817G>A/Pat4 PubMed: Antoniadi 2015. PubMed: Forrester 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United Kingdom (Great Britain) - - - - - neuropathy no upper limb weakness; lower limb pes cavus, tight Achilles tendon; chronic denervation in legs 1 1 Johan den Dunnen
00296558 Pat5 PubMed: Forrester 2020 5-generation family, 10 affected (2F, 8M) M - - - - - - - neuropathy upper limb weakness in muscles around thumb, lower limbs pes cavus, hammer toes, ankle jerks depressed 1 10 Johan den Dunnen
00296559 Pat6 PubMed: Forrester 2020 variant segregates in extensive family - - - - - - - - neuropathy upper limb weakness/wasting in small muscles of hands; lower limb pain and weakness in feet; nerve conduction study upper limb normal compound muscle action potential,mild/moderate slowing motor conduction velocity, normal sensory nerve action potential; nerve conduction study upper limb potentials absent motor conduction velocity, lower limit of normal sensory nerve action potential; needle EMG length-dependent denervation changes 1 1 Johan den Dunnen
00296598 Pat31 PubMed: Kemp 2011, PubMed: Taylor 2014 2 affected sibs F yes Turkey - 1m - - - ? deceased; muscle affected; central nervous system not affected; heart affected; liver not affected; 1 2 Johan den Dunnen
00299991 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300049 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300051 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00300052 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00300151 Pat4 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00374667 S-3679 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00399031 P79 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK 173 U/L 1 1 Johan den Dunnen
00399082 P163 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD pes cavus 1 1 Johan den Dunnen
00399539 FamPatIV4 PubMed: Yalcouye 2019 5-generation family, affected brother/sister, unaffected heterozygous carrier mother M yes Mali Barbara >35y - - - CMT Distal upper limb muscle weakness (HP:0008959); distal upper limb muscle atrophy (HP:0007149); distal lower limb muscle weakness (HP:0009053); muscle atrophy, lower limb, distal (HP:0008944); distal sensory loss (HP:0002936); claw hands (HP:0001171); decreased reflexes (HP:0001265); steppage gait (HP:0003376) 1 1 Sarah El-Bestawi
00399540 FamPatIV6 PubMed: Yalcouye 2019 sister F yes Mali Barbara >19y - - - CMT Distal upper limb muscle weakness (HP:0008959); distal upper limb muscle atrophy (HP:0007149); distal lower limb muscle weakness (HP:0009053); muscle atrophy, lower limb, distal (HP:0008944); distal sensory loss (HP:0002936); steppage gait (HP:0003376); decreased reflexes (HP:0001265) 1 1 Sarah El-Bestawi
00428312 FamPatIV4 PubMed: Yalcouye 2022 5-generation family, affected brother/sister (F, M), unaffected carrier mother M yes Mali Africa >12y - - - CMT2D - 1 2 Yacouba Dia
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