All individuals with variants in gene SIGMAR1

11 entries on 1 page. Showing entries 1 - 11.
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00078534 - PubMed: Kim 2014, Journal: Kim 2014 No family history F - - Korean >55y - - - ALS slowly progressive limb weakness (HP:0003690) 1 1 Jamie Zeegers
00094983 - PubMed: Gregianin 2016, Journal: Gregianin 2016 3-generation family, 2 affected nieces, unaffected heterozygous carrier parents F - Italy Italian, south - - - - HMN see paper; ... 1 2 Johan den Dunnen
00094985 - PubMed: Gregianin 2016, Journal: Gregianin 2016 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Italy - - - - - HMN see paper 1 2 Johan den Dunnen
00134037 21842496-FamALS002 PubMed: Al-Saif 2011 4-generation family, 6 affecteds (2F, 4M), unaffected heterozygous carrier relatives F;M yes Saudi Arabia - - - - - ALS see paper; ... 1 6 Johan den Dunnen
00207795 - - - F - Germany - - - - - - HP:0002527 (Falls); HP:0001288 (Gait disturbance); HP:0000762 (Decreased nerve conduction velocity); HP:0009130 (Hand muscle atrophy); HP:0003394 (Muscle cramps); HP:0001436 (Abnormality of the foot musculature); HP:0007010 (Poor fine motor coordination) 2 1 Andreas Laner
00294848 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 57 Mohammed Faruq
00374631 S-4320 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374632 S-3676 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374719 S-846 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00403771 - - - M yes Egypt - - - - - ALS The proband is a-20-year old boy. He is a normal product of pregnancy and delivery of a consanguineous marriage between his parents. He has a history of a-14-years old female cousin with similar condition and became wheel chair bound earlier at her third decade. The condition of the proband started at the age of 8 years as he developed progressive distal lower limbs’ weakness resulting in frequent falls, followed within a year by weakness in both upper limbs marked in the hands. He walks with support. Neurological examination revealed wasting of small muscles of the hands and forearms, legs and feet, weak hand grips (grade 3), weak elbow flexion (grade 4), weak ankle and toes flexors and extensors (grade: 2) and normal power in muscles of the shoulders, hips and knees. He has hyporeflexia. There was no tongue weakness or fasciculation but marked fissuring. There were no visible fascinations. Here is normal sensory system examination. No cranial nerve involvement or sphincter problems. Nerve conduction velocity study showed manifestations of chronic denervation. 1 1 Sherifa Ahmed Hamed
00404924 Fam6 PubMed: Sharifi 2021 analysis 432 SMA families; 6-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives F yes Iran - - - - - SMA - 1 1 Johan den Dunnen
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