All individuals with variants in gene SPG11

88 entries on 1 page. Showing entries 1 - 88.
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00039356 - - - - - Greece - - - - - SPG11 - 1 1 David Lynch
00039357 - - - - - Greece - - - - - SPG11 - 2 1 David Lynch
00046996 - - - - - - - - - - - SPG11 - 1 1 David Lynch
00046997 - - - - - - - - - - - SPG11 - 1 1 David Lynch
00046998 - - - - - - - - - - - SPG11 - 1 1 David Lynch
00046999 - - - - - - - - - - - SPG11 - 1 1 David Lynch
00059134 - - family, 5 affecteds (3 affected siblings, 1 cousin), unaffected heterozygous carrier parents, heterozygous in 7 healthy related individuals F yes (France);Sudan African Arabs - - yes - SPG11 spastic paraplegia, ataxia, cognitive deficit, atrophy of the corpus callosum, motor demyelination mixed with axonal degeneration 1 5 Mahmoud Koko
00059230 - - family, 5 affecteds and several unaffected heterozygous carriers F yes (France);Sudan - - - yes - SPG11 spastic paraplegia, ataxia, dysarthria 1 5 Mahmoud Koko
00059232 - - - M yes (France);Sudan - - - yes - SPG11 spastic paraplegia, muscle wasting, ataxia, dysarthria, hypokinesia, rigidity 1 2 Mahmoud Koko
00059264 - - - ? ? Poland - - - - - SPG11 - 1 1 Christian Beetz
00059265 - - - ? no Poland - - - - - SPG11 - 2 1 Christian Beetz
00059266 - - - ? no Poland - - - - - SPG11 - 2 1 Christian Beetz
00059267 - - - ? no Poland - - - - - SPG11 - 2 1 Christian Beetz
00059268 - - - ? no Poland - - - - - SPG11 - 1 1 Christian Beetz
00059269 - - - ? no Poland - - - - - SPG11 - 2 1 Christian Beetz
00059270 - - - ? no Germany - - - - - SPG11 - 2 1 Christian Beetz
00059271 - - - ? no Germany - - - - - SPG11 - 2 1 Christian Beetz
00059272 - - - ? no Germany - - - - - SPG11 - 2 1 Christian Beetz
00059273 - - - ? no Germany - - - - - SPG11 - 2 1 Christian Beetz
00059274 - - - ? no United States - - - - - SPG11 - 2 1 Christian Beetz
00059275 - - - ? no Germany - - - - - SPG11 - 2 1 Christian Beetz
00081079 - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - - - - SPG11 Spastic paraplegia 11, autosomal recessive (OMIM:604360) 1 1 Daniel Trujillano
00144618 - - - F - (Germany) - - - - - ? HP:0001258 (Spastic paraplegia) 1 1 IMGAG
00150162 26539891-FamBAB5189 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? hereditary spastic paraplegia 1 3 Johan den Dunnen
00183456 Patient XVIII PubMed: Giugliano 2018 - M - Italy - - - - - MYOP onset juvenile, distal weakness, proximal and distal muscle weaknesss, normal CPK (1x), EMG myopathic; dystrophic features, central nuclei, increased connective tissue and rare vacuoles 1 1 Teresa Giugliano
00218044 - - - F - - - - - - - ? HP:0002352 (Leukoencephalopathy) 1 1 IMGAG
00274061 P1 PubMed: Wei 2011 - - - China - - - - - SPG - 1 1 Johan den Dunnen
00289283 - - - F - - - - - - - ? Gait disturbance (HP:0001288); Hyperreflexia (HP:0001347); Talipes (HP:0001883); Broad-based gait (HP:0002136); Pelvic girdle muscle weakness (HP:0003749) 1 1 Andreas Laner
00291216 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291217 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291218 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00291219 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 27 Mohammed Faruq
00291220 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 35 Mohammed Faruq
00291221 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 11 Mohammed Faruq
00291222 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00291223 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 31 Mohammed Faruq
00291224 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00295151 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 87 Mohammed Faruq
00295499 - - - F - - - - - - - ? Abnormality of movement (HP:0100022) 1 1 Andreas Laner
00295751 - - - M - - - - - - - ? Gait disturbance (HP:0001288); Cataract (HP:0000518); Type II diabetes mellitus (HP:0005978); Hypertension (HP:0000822); Functional abnormality of the bladder (HP:0000009) 1 1 Andreas Laner
00295913 - - - F - - - - - - - ? Abnormality of movement (HP:0100022); Gait disturbance (HP:0001288); Spastic gait (HP:0002064) 2 1 Andreas Laner
00295927 - - - F - - - - - - - ? Morphological abnormality of the central nervous system (HP:0002011); Abnormality of the cerebrospinal fluid (HP:0002921) 1 1 Andreas Laner
00296867 - - - M - - - - - - - ? Hypertonia (HP:0001276); Spastic paraparesis (HP:0002313); Corpus callosum atrophy (HP:0007371); Delayed speech and language development (HP:0000750) 1 1 Andreas Laner
00300312 - - - M - - - - - - - ? Spastic paraparesis (HP:0002313) 1 1 Andreas Laner
00305328 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00306777 - - - ? - - - - - - - ? Progressive spastic paraparesis (HP:0007199) 1 1 IMGAG
00307308 - - - F - - - - - - - ? Lower limb hyperreflexia (HP:0002395) 1 1 Andreas Laner
00318003 PKMR184 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - ID Moderate ID, weak memory, weak limbs and muscles 1 1 Johan den Dunnen
00324342 - - - M - - - - - - - ? Spastic paraplegia (HP:0001258); Myopathy (HP:0003198) 1 1 IMGAG
00324887 Fam21 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - NDD see paper; ..., birth 40w, weight +0/13SD, OFC -1.3SD; weight -1.7SD, length -2.6SD, OFC -2.07SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; 35m-walk; speech delay; no speech; autistic behaviour; stereotypies; hyperactivity; feeding difficulties; sleeping disturbance; almond eyes; thin upper lip; epicanthus 1 1 Johan den Dunnen
00361900 - - - - - - - - - - - MPS3A, SPG11 Intellectual delay, coarse face, enzyme assay suggestive of Sanfilipo disease 1 1 Anju Shukla
00361901 - - - - - - - - - - - MC1DN, SPG11 Neuroregression following viral illness, hypotonia, normal deep tendon reflexes 1 1 Anju Shukla
00372760 179077 - - F ? Germany - - - - - SPG11 Spastic paraparesis and paraplegia 2 1 Andreas Laner
00374508 S-4250 PubMed: Ganapathy 2019 - - - India - - - - - ? Muscular dystrophy 1 1 Johan den Dunnen
00374509 S-7220 PubMed: Ganapathy 2019 - - - India - - - - - ? Progressive spastic paraplegia and cognitive impairment 1 1 Johan den Dunnen
00374510 S-4523 PubMed: Ganapathy 2019 - - - India - - - - - ? Problems with walking, talking and memory 1 1 Johan den Dunnen
00374511 S-4351 PubMed: Ganapathy 2019 - - - India - - - - - ? Difficulty in walking and learning 1 1 Johan den Dunnen
00374711 S-4151 PubMed: Ganapathy 2019 - - - India - - - - - ? - 2 1 Johan den Dunnen
00403889 - family, patient and brother with similar condition - F - Egypt - - - - - SPG11 delayed mental and physical development, spastic lower limbs, hyperreflexia, Babinski sign, intact abdominal reflex, pes cavus; brother with similar condition 1 2 Sherifa Ahmed Hamed
00403897 - family, female with two older sisters with similar condition - F yes Egypt - - - - - SPG11 11y-developed illness, spastic lower limbs, hyperreflexia, intact abdominal reflexes, Babinski sign, bilateral pes cavus; two older sisters with similar condition 1 3 Sherifa Ahmed Hamed
00403909 - - - M yes Egypt - - - - - SPG11 spastic lower limbs, cerebellar ataxia, pes cavus 1 1 Sherifa Ahmed Hamed
00403923 - - - F yes Egypt - - - - - SPG11 Progressive spastic paraparesis 1 1 Sherifa Ahmed Hamed
00403925 - - - M yes Egypt - - - - - SPG11 Progressive spastic paraparesis 1 1 Sherifa Ahmed Hamed
00404047 - - - M yes Egypt - - - - - SPG11 22-y with progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy and pes cavus. Nerve conduction velocity study showed demyelinating peripheral neuropathy 1 3 Sherifa Ahmed Hamed
00404048 - - - M yes Egypt - - - - - SPG11 16-y male with progressive cerebellar ataxia and peripheral neuropathy. Neurological examination revealed intention tremors, staccato speech, pes cavus, stocking and glove hypesthesia, exaggerated knee reflex and Babinski sign 1 2 Sherifa Ahmed Hamed
00404050 - - - F - Egypt - - - - - SPGF11 28y female with progressive spastic paraparesis, mental retardation, slurred speech and pes cavus 1 2 Sherifa Ahmed Hamed
00404058 - - - M yes Egypt - - - - - SPG11 36-y man with progressive spastic paraparesis. Neurological examination showed spastic lower limbs, pes cavus and peripheral neuropathy. Nerve conduction velocity study showed demyelinating peripheral Neuropathy 1 4 Sherifa Ahmed Hamed
00404063 - - - F - Egypt - - - - - SPG11 20-y female with progressive spastic paraparesis, pes cavus, peripheral neuropathy, mild/moderate mental subnormality. 1 2 Sherifa Ahmed Hamed
00404098 - - - M yes Egypt - - - - - SPGF11 28-y male with delayed mental development. He developed progressive spastic lower limbs, wasting of small muscles of the hands and pes cavus. He has two paternal male uncles with similar condition. 1 2 Sherifa Ahmed Hamed
00404099 - - - F yes Egypt - - - - - SPG11 34-y female with progressive spasticity in both lower limbs and cognitive deterioration and stocking and glove hypesthesia. 1 2 Sherifa Ahmed Hamed
00404100 - - - M yes Egypt - - - - - SPG11 42-y man with progressive spastic lower limbs, slurred speech and bilateral pes cavus. 1 3 Sherifa Ahmed Hamed
00404101 - - - M yes Egypt - - - - - SPG11 18-y male with progressive weakness and spasticity of both lower limbs, cognitive deterioration, limb ataxia, peripheral neuropathy and bilateral pes cavus. He had history of delayed mental and motor development. 1 3 Sherifa Ahmed Hamed
00404102 - - - F yes Egypt - - - - - SPG11 38-y woman with progressive weakness and spasticity of both lower limbs, mild hand weakness and bilateral pes cavus. 1 1 Sherifa Ahmed Hamed
00407041 SPG11#1 PubMed: Jiang 2022 - M - China - - - - - ALS site onset limb 2 1 Johan den Dunnen
00407042 SPG11#2 PubMed: Jiang 2022 - F - China - - - - - ALS site onset limb 1 2 Johan den Dunnen
00408673 Pat21 PubMed: Thomas 2022 no family history - no France - - - - - ? - 2 1 Johan den Dunnen
00414061 AR9 Pennings et al. 2022, in progress - F - Netherlands - - - - - Healthy/Control spasticity, dysarthria 1 1 Maartje Pennings
00414062 AR10 Pennings et al. 2022, in progress - M - Netherlands - - - - - Healthy/Control spasticity and speech problems 1 1 Maartje Pennings
00414063 AR11 Pennings et al. 2022, in progress - F - Netherlands - - - - - Healthy/Control spastic paraplegia, swallowing and speech disorder 1 1 Maartje Pennings
00414064 AR12 Pennings et al. 2022, in progress - M - Netherlands - - - - - Healthy/Control hereditary spastic paraplegia 1 1 Maartje Pennings
00427972 A014 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 2 1 Johan den Dunnen
00432529 - - - - - - - - - - - ALS - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00435207 - - - - - - - - - - - SPG - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00442605 RDHR07 - - - yes Pakistan - - - - - SPG11 - 1 3 Sadaf Naz
00447356 STGD-389 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 2 1 Johan den Dunnen
00455765 Pat5 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00455806 Pat46 PubMed: Salinas 2020 patient M - - - - - - - ? - 2 1 Johan den Dunnen
00455813 Pat53 PubMed: Salinas 2020 patient F - - - - - - - ? - 1 1 Johan den Dunnen
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