All individuals with variants in gene TFG

9 entries on 1 page. Showing entries 1 - 9.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00059235 - - homozygous in three affected siblings, heterozygous in parents and one sibling, not present in one healthy sibling F yes (France);Sudan - - - yes - SPG57 spastic paraplegia, cognitive impairment 1 3 Mahmoud Koko
00074496 - Harlalka et al, submitted to Human Mutation in 2016 - F yes Pakistan - - - - - SPG57 subclinical signs for upper motoneuron pathology 1 1 Christian Beetz
00074498 - Harlalka et al, submitted to Human Mutation in 2016 - M yes Pakistan - - - - - SPG57 - 1 1 Christian Beetz
00074499 - Harlalka et al, submitted to Human Mutation in 2016 - F yes Pakistan - - - - - SPG57 - 1 1 Christian Beetz
00074500 - Harlalka et al, submitted to Human Mutation in 2016 - F yes Pakistan - - - - - SPG57 - 1 1 Christian Beetz
00074502 - Harlalka et al, submitted to Human Mutation in 2016 - F ? India - - - - - SPG57 - 1 1 Christian Beetz
00074503 - Harlalka et al, submitted to Human Mutation in 2016 - F ? India - - - - - SPG57 - 1 1 Christian Beetz
00301732 17-1906 PubMed: Maddirevula 2019 - F - - - - - - - ? product of FT SVD. She sat at 6 months of age, crawled at 8 months, she is still unable to walk independently, and is only able to say few words which were not clear. Her vision and hearing were normal. She can recognize her family members. Not dysmorphic but she has spasticity of the lower limbs. The impression when she was at the age of 2 years was spastic paraplegia. Parents are consanguineous related as first cousins and reported to have good health. They have three daughters; two of them are affected with the same presentation. Positive family history of similar illness in her cousin. She also has one uncle and one aunt from her paternal side with similar presentation. 1 1 Johan den Dunnen
00395614 RP-3055 PubMed: Perea-Romero 2021 - - - Spain - - - - - retinal disease cataract, glaucoma, rod-cone dystrophy, severe myopia, conductive hearing impairment, intellectual disability, renal atrophy, renal insufficiency 1 1 LOVD
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.