All individuals with variants in gene SLC16A2

16 entries on 1 page. Showing entries 1 - 16.
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Owner     
00016962 19377130-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00017003 - - - M - France ? - 0 - - AHDS - 1 1 Catherine Barriere
00017004 - - - M - France ? - 0 - - AHDS - 1 1 Catherine Barriere
00017024 Pat20 PubMed: Tzschach 2015 family, 1 affected, unaffected heterozygous carrier mother/grandmother M - ? (unknown) ? - 0 - - MRX;IDX severe intellectual disability, not able to walk, no speech, spastic paraplegia, dystonia, strabismus, optic atrophy, cryptorchidism, short stature (150 cm, <3rd centile), severely underweight (28 kg), OFC 54 cm (3rd-10th centile); 2y6m-MRI brain severely delayed myelination; thyroid parameters showed low T4, normal TSH, elevated T3 1 1 Andreas Tzschach
00079672 - - - M no Italy whites - 0 - - AHDS - 1 1 Francesca Novara
00079673 - - - M no Italy white - 0 - - AHDS - 1 1 Francesca Novara
00079674 - - - M no Italy white - 0 - - AHDS - 1 1 Francesca Novara
00081024 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - 0 - - AHDS Allan-Herndon-Dudley syndrome (OMIM:300523) 1 1 Daniel Trujillano
00180167 29286531-Pat19 PubMed: TumienÄ— 2018 - - - (Slovenia) - - 0 - - ? Epileptic encephalopathy (HP:0200134), severe global developmental delay (HP:0011344). 1 1 Johan den Dunnen
00183120 FamL107 PubMed: Philips 2014, PubMed: Hu 2016 4-generation family, 3 affected (3M), 1 unaffected heterozygous carrier female M - Finland - - 0 - - MRX;IDX - 1 3 Johan den Dunnen
00183121 25644381-FamP52 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183163 25644381-FamD299 PubMed: Hu 2016 family, 1 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00183662 27620904-Pat07 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - 0 - - ID - 1 1 Johan den Dunnen
00296785 APN-110 PubMed: Redin 2014 analysis 106 patients; 3-generation family, 2 affected brothers/uncle, unaffected carrier mother M - France - - 0 - - ID severe intellectual disability 1 3 Johan den Dunnen
00374494 S-2432 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Cerebral atrophy and global developmental delay 1 1 Johan den Dunnen
00399155 FamD299 PubMed: Philips 2014 3-generation family, 3 affected half-brothers, unaffected heterozygous carrier mother M - Finland - - 0 - - ID see paper; ... 1 3 Johan den Dunnen
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