All individuals with variants in gene GDAP1

100 entries on 1 page. Showing entries 1 - 100.
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00035924 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00103670 ? PubMed: Crimella 2010 - - - - - - - - - CMT2K Charcot-Marie-Tooth disease 2K, axonal 1 1 Johan den Dunnen
00103671 ? PubMed: Di Maria 2004 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103672 ? PubMed: Senderek 2003 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103673 ? PubMed: Ammar 2003 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103674 ? PubMed: Boerkoel 2003 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A 1 1 Johan den Dunnen
00103675 ? PubMed: Moroni 2009 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A, early onset axonal 1 1 Johan den Dunnen
00103676 ? PubMed: Zimon 2011 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal dominant 1 1 Johan den Dunnen
00103677 ? PubMed: Moroni 2009 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A, early onset axonal 1 1 Johan den Dunnen
00103678 ? PubMed: Kabzinska 2005 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103679 ? PubMed: Georgiou 2006 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103680 ? PubMed: Parman 2004 - - - - - - - - - ? Demyelinating peripheral neuropathy 1 1 Johan den Dunnen
00103681 ? PubMed: Sevilla 2008 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A 1 1 Johan den Dunnen
00103682 ? PubMed: Kabzinska 2007 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103683 ? PubMed: Zimon 2011 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal dominant 1 1 Johan den Dunnen
00103684 ? PubMed: Claramunt 2005 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A 1 1 Johan den Dunnen
00103685 11743579-FamDUK1403 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - - - - CMT4A Charcot-Marie-Tooth disease 4A 1 1 Johan den Dunnen
00103686 11743580-FamLF38 PubMed: Cuesta 2002 5-generation family, 9 affecteds (3F, 6M), unaffected heterozygous carrier parents F;M yes Spain - - - - - Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive see paper; ..., autosomal recessive distal axonal neuropathy with hoarseness and vocal cord paresis 1 9 Johan den Dunnen
00103687 ? PubMed: Zhang 2004 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103688 ? PubMed: Stojkovic 2004 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103689 ? PubMed: Barankova 2007 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103690 11743579-FamDUK1402 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - - - - CMT4A Charcot-Marie-Tooth disease 4A 1 1 Johan den Dunnen
00103691 ? PubMed: Chung 2008 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A 1 1 Johan den Dunnen
00103692 ? PubMed: Auer-Grumbach 2008 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103693 ? PubMed: Moroni 2009 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A, early onset axonal 1 1 Johan den Dunnen
00103694 ? PubMed: Chung 2011 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103695 ? PubMed: De Sandre-Giovannoli 2003 - - - - - - - - - ? Demyelinating peripheral neuropathy 1 1 Johan den Dunnen
00103696 ? PubMed: Crimella 2010 - - - - - - - - - CMT2K Charcot-Marie-Tooth disease 2K, axonal 1 1 Johan den Dunnen
00103697 ? PubMed: Kabzinska 2010 - - - - - - - - - CMT2 Charcot-Marie-Tooth disease 2 1 1 Johan den Dunnen
00103698 ? PubMed: Xin 2008 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103699 ? PubMed: Ammar 2003 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103700 ? PubMed: Cassereau 2009 - - - - - - - - - CMT2K Charcot-Marie-Tooth disease 2K 1 1 Johan den Dunnen
00103701 ? PubMed: Abe 2011 - - - - - - - - - CMT Charcot-Marie-Tooth disease, axonal 1 1 Johan den Dunnen
00103702 ? PubMed: Zhang 2004 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103703 ? PubMed: Bouhouche 2007 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A 1 1 Johan den Dunnen
00103704 ? PubMed: Shagina 2010 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A 1 1 Johan den Dunnen
00103705 12499475-FamCMT109 PubMed: Nelis 2002 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/sibs F;M - Turkey - - - - - CMT4A Charcot-Marie-Tooth disease 4A 1 2 Johan den Dunnen
00103706 ? PubMed: Ammar 2003 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103707 ? PubMed: Kabzinska 2010 - - - - - - - - - CMT2 Charcot-Marie-Tooth disease 2 1 1 Johan den Dunnen
00103708 ? PubMed: Zimon 2011 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal dominant 1 1 Johan den Dunnen
00103709 ? PubMed: Rougeot 2008 - - - - - - - - - ? Neuropathy, early onset 1 1 Johan den Dunnen
00103710 12499475-FamCMT139 PubMed: Nelis 2002 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - CMT4A Charcot-Marie-Tooth disease 4A 1 2 Johan den Dunnen
00103711 ? PubMed: Abe 2011 - - - - - - - - - CMT Charcot-Marie-Tooth disease, axonal 1 1 Johan den Dunnen
00103712 11743580-FamLF20 PubMed: Cuesta 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - - - - Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive see paper; ... 2 1 Johan den Dunnen
00103713 ? PubMed: Moroni 2009 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A, early onset axonal 1 1 Johan den Dunnen
00103714 ? PubMed: Crimella 2010 - - - - - - - - - CMT2K Charcot-Marie-Tooth disease 2K, axonal 1 1 Johan den Dunnen
00103715 ? PubMed: Azzedine 2003 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103716 11743579-FamDUK1404 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - - - - CMT4A Charcot-Marie-Tooth disease 4A 1 1 Johan den Dunnen
00103717 ? PubMed: Kabzinska 2011 - - - - - - - - - CMT Charcot-Marie-Tooth disease 2C 1 1 Johan den Dunnen
00103718 ? PubMed: Moroni 2009 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A, early onset axonal 1 1 Johan den Dunnen
00103719 ? PubMed: Chung 2011 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103720 ? PubMed: Ammar 2003 - - - - - - - - - CMT Charcot-Marie-Tooth disease, autosomal recessive 1 1 Johan den Dunnen
00103721 ? PubMed: Kabzinska 2006 - - - - - - - - - CMT4A Charcot-Marie-Tooth disease 4A 1 1 Johan den Dunnen
00103722 11743580-FamLF249 PubMed: Cuesta 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - no Spain - - - - - Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive - 2 1 Johan den Dunnen
00103723 11743579-FamDUK1405 PubMed: Baxter 2002 family, several affecteds, unaffected heterozygous carrier parents/relatives - yes Tunisia - - - - - CMT4A - 1 1 Johan den Dunnen
00103724 12499475-FamPN860 PubMed: Nelis 2002 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Morocco - - - - - CMT4A see paper; ... 1 2 Johan den Dunnen
00103725 12499475-FamCMT111 PubMed: Nelis 2002 2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents F;M - Turkey - - - - - CMT4A see paper; ... 1 3 Johan den Dunnen
00219055 28902413-Pat65 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - CMT CMT4A, AR-CMT, CMT2K, CMT RIA 1 1 Johan den Dunnen
00219056 28902413-Pat66 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - CMT CMT4A, AR-CMT, CMT2K, CMT RIA; no family history 1 1 Johan den Dunnen
00228269 - - - ? - - - - - - - ? Motor axonal neuropathy (HP:0007002); Sensory axonal neuropathy (HP:0003390) 1 1 IMGAG
00263913 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00263914 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00263915 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00263916 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00263917 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00294666 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294667 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00299992 Pat-GDAP1-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00299993 Pat-GDAP1-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT - 1 1 Johan den Dunnen
00299994 Pat-GDAP1-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300053 Pat-GDAP1-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300054 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT - 1 1 Johan den Dunnen
00300055 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT - 1 1 Johan den Dunnen
00300105 Pat-GDAP1-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300113 Pat-GDAP1-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300116 Pat-GDAP1-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300122 Pat-GDAP1-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300127 Pat16 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00324635 Fam3 PubMed: Lin 2011 3-generation family, 1 affected, unaffected heterozygous carrier parents F - Taiwan Han Chinese - - - - CMT see paper; ... 2 1 Johan den Dunnen
00374322 S-710 PubMed: Ganapathy 2019 - - - India - - - - - ? Features suggestive of neuropathies 1 1 Johan den Dunnen
00374323 S-3459 PubMed: Ganapathy 2019 - - - India - - - - - ? Delayed motor milestones, distal lower limb weakness, upper limb weakness, thenar and hypothenar wasting, distal limb wasting with arreflexia 2 1 Johan den Dunnen
00374324 S-5873 PubMed: Ganapathy 2019 - - - India - - - - - ? Distal weakness and features suggestive of hereditary motor sensory neuropathy 1 1 Johan den Dunnen
00374325 S-5083 PubMed: Ganapathy 2019 - - - India - - - - - ? Features suggestive of ASD 1 1 Johan den Dunnen
00374720 S-4324 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00398625 1196 PubMed: Ferese 2021 2-generation family, 2 affected M - Italy - >69y - - - CMT2K see paper; ..., peripheral neuropathy (HP:0009830), No decreased nerve conduction velocity (-HP:0000762) 1 1 Yvet den Hartog
00398980 - PubMed: Xue H 2021 2-generation family, 1 affected, unaffected father, unaffected carrier mother M - China Chinese >16y - - - CMT4A Gait disturbance (HP:0001288),Lower limb amyotrophy (HP:0007210), Split hand (HP:0001171), Difficulty running (HP:0009046), Difficult climbing stairs (HP:0003551), Lower limb muscle weakness (HP:0007340), High-arched feet Pes cavus (HP:0001761), Ankle weakness (HP:0031374), Limited ankle dorsiflexion (HP:0033526), No spinal deformities (-HP:0008443), Reduced tendon reflexes (HP:0001315), No impaired tactile sensation (-HP:0010830), No impaired pain sensation (-HP:0007328), Decreased nerve conduction velocity (HP:0000762) 2 1 Yvet den Hartog
00398982 II-1 PubMed: Mai PT 2019 2-generation family, 3 affected siblings, 2 unaffected carrier parents F - Viet Nam Vietnamese >16y - - - CMT4A Lower limb amyotrophy (HP:0007210), Upper limb amyotrophy (HP:0009129), Intrinsic hand muscle atrophy (HP:0008954), Areflexia (HP:0001284), Proximal muscle weakness (HP:0003701), Somatic sensory dysfunction (HP:0003474), Impaired distal tactile sensation (HP:0006937), Impaired pain sensation (HP:0007328), Pes cavus (HP:0001761), No hoarse voice (-HP:0001609), No vocal cord paresis (-HP:0001604), No diaphragmatic paralysis (HP:0006597), No cognitive impairment (-HP:0100543), No Decreased compound muscle action potential amplitude (-HP:0033383), No respiratory failure (-HP:0002878), Difficulty running (HP:0009046) 1 3 Yvet den Hartog
00399124 II-2 PubMed: Mai PT 2019 2-generation family, 3 affected siblings, 2 unaffected carrier parents F - Viet Nam Vietnamese >12y - - - CMT4A Lower limb amyotrophy (HP:0007210), Upper limb amyotrophy (HP:0009129), Intrinsic hand muscle atrophy (HP:0008954), Areflexia (HP:0001284), Proximal muscle weakness (HP:0003701), Somatic sensory dysfunction (HP:0003474), Impaired distal tactile sensation (HP:0006937), Impaired pain sensation (HP:0007328), Pes cavus (HP:0001761), No hoarse voice (-HP:0001609), No vocal cord paresis (-HP:0001604), No diaphragmatic paralysis (HP:0006597), No cognitive impairment (-HP:0100543), No Decreased compound muscle action potential amplitude (-HP:0033383), No respiratory failure (-HP:0002878), Difficulty running (HP:0009046) 1 1 Yvet den Hartog
00399125 II-3 PubMed: Mai PT 2019 2-generation family, 3 affected siblings, 2 unaffected carrier parents M - Viet Nam Vietnamese >03y04m - - - CMT4A Upper limb amyotrophy (HP:0009129), Intrinsic hand muscle atrophy (HP:0008954), Areflexia (HP:0001284), Proximal muscle weakness (HP:0003701), Somatic sensory dysfunction (HP:0003474), Impaired distal tactile sensation (HP:0006937), Impaired pain sensation (HP:0007328), No hoarse voice (-HP:0001609), No vocal cord paresis (-HP:0001604), No diaphragmatic paralysis (HP:0006597), No cognitive impairment (-HP:0100543), No Decreased compound muscle action potential amplitude (-HP:0033383), No respiratory failure (-HP:0002878), Difficulty running (HP:0009046) 1 1 Yvet den Hartog
00400218 CMT2-102-II7 PubMed: Khani 2020 3-generation family, 3 affected, 5 unaffected carriers, 1 unaffected, 8 untested F - Iran - >24y - - - CMT2 - 1 3 Yvet den Hartog
00400219 CMT2-102-III4 PubMed: Khani 2020 3-generation family, 3 affected, 5 unaffected carriers, 1 unaffected, 8 untested F - Iran - >11y - - - CMT2 - 1 1 Yvet den Hartog
00400220 CMT2-102-III6 PubMed: Khani 2020 3-generation family, 3 affected, 5 unaffected carriers, 1 unaffected, 8 untested F - Iran - >05y - - - CMT2 - 1 1 Yvet den Hartog
00400221 II-2 PubMed: Jiang H 2021 2-generation family, 2 affected, 1 unaffected, 2 unaffected carrier parents F no China Chinese >29y - - - CMT4A Skeletal muscle atrophy (HP:0003202), Abnormal bone ossification (HP:0011849), No abnormal bone structure (-HP:0003330), Ankle flexion contracture (HP:0006466), Pes cavus (HP:0001761), Muscle weakness (HP:0001324), Bilateral talipes equinovarus (HP:0001776), Abnormality of the wrist (HP:0003019), Joint contracture of the hand (HP:0009473), Contracture involving the joints of the feet (HP:0008366), No poor speech (-HP:0002465), No hearing abnormality (-HP:0000364), No abnormality of vision (-HP:0000504), No intellectual disability (-HP:0001249), Poor gross motor coordination (HP:0007015), Somatic sensory dysfunction (HP:0003474), Peripheral neuropathy (HP:0009830), Reduced bone mineral density (HP:0004349), No skeletal dysplasia (HP:0002652), Gait disturbance (HP:0001288) 1 2 Yvet den Hartog
00400222 Family 1 III-1 PubMed: Chen 2020 3-generation family, 3 affected, 5 unaffected carriers, 2 untested M no China - >30y - - - CMT - 1 1 Yvet den Hartog
00400223 Family 2 II-1 PubMed: Chen 2020 2-generation family, 1 affected, 2 unaffected carriers M - China - >05y - - - CMT2K - 2 1 Yvet den Hartog
00400224 Family 3 II-2 PubMed: Chen 2020 3-generation family, 1 affected, 1 unaffected carrier, 1 unaffected, 2 untested F - China - >73y - - - CMT2K - 1 1 Yvet den Hartog
00400225 FamPatII7 PubMed: Fierro 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Mexico - >10y - - - CMT2 Toe walking (HP:0040083), Pes cavus (HP:0001761), Foot dorsiflexor weakness (HP:0009027), Distal muscle weakness (HP:0002460), Distal amyotrophy (HP:0003693), Gait disturbance (HP:0001288), Inability to walk (HP:0002540), No areflexia (-HP:0001284), Impaired vibratory sensation (HP:0002495), Impaired tactile sensation (HP:0010830), Sensorimotor neuropathy (HP:0007141), Delayed ability to walk (HP:0031936) 1 1 Yvet den Hartog
00403765 - - - F yes Egypt - - - - - CMT2 The proband is a-16-years old female who is a product of normal pregnancy and delivery of two healthy parents (consanguineous marriage). She developed the illness at the age of 6 which started as tiptoe walking, progressive upper and lower limbs weakness and wasting followed by bilateral foot drop. She was ambulant and walk without support. She has a brother 30 years old with similar condition and nearly started at the same patient’s onset. Neurological examination revealed wasting of small muscles of the hands, forearms and legs, marked on the left side; weakness of hand grips, fingers, ankles dorsiflexion and planter flexion (grade: 2/3); diminished deep tendon jerks in both upper and lower limbs; lost planter response; stocking and glove hypesthesia, lost deep sensation in lower limbs, bilateral foot drop. Nerve conduction velocity study showed mainly axonal peripheral neuropathy. 1 2 Sherifa Ahmed Hamed
00403768 - - - M yes Egypt - - - - - CMT2 The proband is a-30-years old male who is a product of normal pregnancy and delivery of two healthy parents (with consanguineous marriage). He developed the illness at the age of 6-7 in the form of progressive lower limbs weakness and wasting followed with 2 years by upper limb weakness and wasting and bilateral foot drop. He walked with moderate support and high stoppages. He has a sister 16 years old with similar condition and nearly started at the same patient’s onset. Neurological examination revealed wasting of small muscles of the hands, forearms and legs; weakness of hand grips, fingers (grade: 2), ankles dorsiflexion and planter flexion (grade: 0); lost deep tendon jerks in both upper and lower limbs; lost planter response; stocking and glove hypesthesia, lost deep sensation in lower limbs, bilateral equinous foot deformities. Nerve conduction velocity study showed severe axonal peripheral neuropathy. g.44104A>C 1 2 Sherifa Ahmed Hamed
00403769 - - - M yes Egypt - - - - - CMT2 12-year boy with progressive weakness and wasting of both upper and lower limbs, sensor loss of hands and feet and bilateral pes cavus. 1 1 Sherifa Ahmed Hamed
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