All individuals with variants in gene SBF2

45 entries on 1 page. Showing entries 1 - 45.
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AscendingIndividual ID     
ID_report     
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Remarks     
Gender     
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Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00036762 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036763 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036764 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036765 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036766 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036767 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036768 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036769 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036770 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036771 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036772 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036773 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036774 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036775 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036776 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036777 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036778 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036779 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036780 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036781 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036782 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00151954 - PubMed: Hirano 2004 - - - - - - - - - CMT4B2 - 1 1 Johan den Dunnen
00151955 - PubMed: Baets 2011 - - - - - - - - - HSAN - 1 1 Johan den Dunnen
00151956 - PubMed: Azzedine 2003 - - - - - - - - - CMT4B2 - 1 1 Johan den Dunnen
00151957 - PubMed: Azzedine 2003 - - - - - - - - - CMT4B2 - 1 1 Johan den Dunnen
00151958 - PubMed: Baets 2011 - - - - - - - - - HSAN - 1 1 Johan den Dunnen
00151959 - PubMed: Baets 2011 - - - - - - - - - HSAN - 1 1 Johan den Dunnen
00151960 - PubMed: Baets 2011 - - - - - - - - - HSAN - 1 1 Johan den Dunnen
00290566 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 10 Mohammed Faruq
00300090 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT - 1 1 Johan den Dunnen
00300091 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT - 1 1 Johan den Dunnen
00300092 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT - 1 1 Johan den Dunnen
00300093 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT - 1 1 Johan den Dunnen
00385481 15022168 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - - - - retinal disease - 1 1 LOVD
00397843 FamAPatII:1 PubMed: Lassuthova 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F likely Turkey - >22y - - - CMT 6m-ocular disease; glaucoma (HP:0000501); distal lower limbs muscle weakness (HP:0009053); hand muscle atrophy-UL (HP:0009130); muscle atrophy, LL, distal (HP:0008944); hammertoe-foot deformity (HP:0001765); claw-hand deformities (HP:0001171); increased deep tendon reflexes-UL (HP:0001347); no abnormal central sensory function (-HP:0011730); scoliosis (HP:0002650) 1 1 Sarah El-Bestawi
00397844 FamBPatII:1 PubMed: Lassuthova 2018 2-generation family, 2 affected (brother/sister), unaffected heterozygous carrier parents F no Germany - - - - - CMT No glaucoma (-HP:0000501); distal lower limbs muscle weakness (HP:0009053); hand muscle atrophy-UL (HP:0009130); lower limb muscle atrophy-feet/calves (HP:0008956); foot deformity (HP:0001760); no hand deformities (-HP:0001155); absent deep tendon reflexes (HP:0001284); steppage gait (HP:0003376) 2 2 Sarah El-Bestawi
00397845 FamBPatII:2 PubMed: Lassuthova 2018 brother M no Germany - >11y - - - CMT No glaucoma (-HP:0000501); distal lower limbs muscle weakness (HP:0009053); hand muscle atrophy-UL (HP:0009130); lower limb muscle atrophy-feet/calves (HP:0008956); foot deformity (HP:0001760); hammertoe (HP:0001765); no hand deformities (-HP:0001155); walks indepently-stumbles frequenly; absent deep tendon reflexes (HP:0001284); no scoliosis (-HP:0002650); waddling gait (HP:0002515) 2 1 Sarah El-Bestawi
00398320 FamCPatII:1 PubMed: Lassuthova 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier mother F likely Turkey - >12y - - - CMT No glaucoma (-HP:0000501); Delayed early motor milestones (HP:0001270); 2y-independent walking; distal muscle weakness (HP:0002460); muscle wasting (HP:0003202); distal upper limb muscle weakness (HP:00008959); distal lower limb muscle weakness (HP:0009053); distal upper limb muscle atrophy-hands (HP:0007149); foot deformity (HP:0001760); pes enquines (HP:0001762); claw hands (HP:0001171); increased deep tendon reflexes (HP:0001374); steppage gait (HP:0003376); no scoliosis (-HP:0002650) 1 2 Sarah El-Bestawi
00398498 FamDPatII:1 PubMed: Lassuthova 2018 2-generation family, 2 affected (brother/sister), unaffected parents F yes India - >43y - - - CMT No glaucoma (-HP:0000501); distal lower limb muscle weakness (HP:0009053); UL-hand muscle atrophy (HP:0009130); muscle atrophy, lower limb, distal (HP:0008944); pes enquines (HP:0001762); no hand deformities (-HP:0001155); no scoliosis (-HP:0002650) 1 2 Sarah El-Bestawi
00398499 FamEPatII:1 PubMed: Lassuthova 2018 2-generation family, 3 affected sibs (2F, M), unaffected parents M likely - Kurdistan >18y - - - CMT Birth-ocular disease; glaucoma (HP:0000501); 3/4y-foot deformity (HP:000160); gait disturbance (HP:0001288); distal lower limb muscle weakness (HP:0009053); no UL-hand muscle atrophy (-HP:0009130); muscle atrophy, lower limb, distal (HP:0008944); pes cavus (HP:0001761); 11y- hammertoe (HP:0001765); no scoliosis (-HP:0002650) 1 3 Sarah El-Bestawi
00398500 FamEPatII:2 PubMed: Lassuthova 2018 sister F likely - Kurdistan >16y - - - CMT Birth-ocular disease; glaucoma (HP:0000501); 12y-hammertoe (HP:0001765); distal lower limb muscle weakness (HP:0009053); no UL-hand muscle atrophy (-HP:0009130); no muscle atrophy, lower limb, distal (-HP:0008944); pes cavus (HP:0001761); no scoliosis (-HP:0002650) 1 1 Sarah El-Bestawi
00398501 FamEPatII:3 PubMed: Lassuthova 2018 sister F likely - Kurdistan >03y - - - CMT 2m-ocular disease; glaucoma (HP:0000501); asymptomatic 1 1 Sarah El-Bestawi
00398502 FamFPatII:1 PubMed: Lassuthova 2018 2-generation family, 1 affected, unaffected heterozygous carrier father/non-carrier mother M no Czech Republic - >35y - - - CMT 32y-ocular disease; increased IOP (HP:0007906); 3y-footdrop (HP:0009027); leg-distal muscle weakness (HP:0002460); distal upper limb muscle weakness (HP:0008959); distal lower limb muscle weakness (HP:0009053); UL-hand muscle atrophy (HP:0009130); feet-upper limb muscle atrophy; 23y-pes cavovarus; claw hands (HP:0001171); increased deep tendon reflexes (HP:0001347); gait disturbance(HP:0001288); hypophonia (HP:0001621) 2 1 Sarah El-Bestawi
00398510 FamGPatII:1 PubMed: Lassuthova 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Czech Republic - >07y - - - CMT Birth-ocular disease; glaucoma (HP:000501); 10y-foot deformity (HP:0001760); distal lower limb muscle weakness (HP:0009053); UL-hand muscle atrophy (HP:0009130); feet-upper limb muscle atrophy; 12y-pes cavovarus; no claw hands (-HP:0001171) 1 1 Sarah El-Bestawi
00446735 - - - F - Germany - - - - - neuropathy - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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