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| Proteinuric renal disease v2.75 | TBC1D8B | Eleanor Williams Tag gene-checked tag was added to gene: TBC1D8B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v2.51 | TBC1D8B |
Ivone Leong Added comment: Comment on phenotypes: Previously: Steroid-resistant nephrotic syndrome |
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| Proteinuric renal disease v2.51 | TBC1D8B | Ivone Leong Phenotypes for gene: TBC1D8B were changed from Steroid-resistant nephrotic syndrome to Nephrotic syndrome, type 20, OMIM:301028 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.80 | TBC1D8B | Eleanor Williams Phenotypes for gene: TBC1D8B were changed from to Steroid-resistant nephrotic syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.79 | TBC1D8B | Eleanor Williams Publications for gene: TBC1D8B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.78 | TBC1D8B | Eleanor Williams Added comment: Comment on mode of inheritance: PMID: 30661770 - 2 carrier (heterozygous) females in family A developed proteinuria at age 7 and as an adult (later than males). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.78 | TBC1D8B | Eleanor Williams Mode of inheritance for gene: TBC1D8B was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.77 | TBC1D8B | Eleanor Williams Mode of inheritance for gene: TBC1D8B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.76 | TBC1D8B | Eleanor Williams Classified gene: TBC1D8B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.76 | TBC1D8B | Eleanor Williams Added comment: Comment on list classification: 2 unrelated families plus functional evidence | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.76 | TBC1D8B | Eleanor Williams Gene: tbc1d8b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.75 | TBC1D8B |
Eleanor Williams edited their review of gene: TBC1D8B: Added comment: Not listed in OMIM or Gene2Phenotype PMID: 30661770 - Dorval et al 2019 - by exome sequencing, they identified missense mutations (c.738G>C and c.872T>C) in TBC1D8B in two families with an X-linked early-onset SRNS with FSGS. Immunofluorescence studies revealed TBC1D8B presence in human glomeruli, and affected individual podocytes displayed architectural changes associated with migration defects commonly found in FSGS. In zebrafish they demonstrated that both knockdown and knockout of the unique TBC1D8B ortholog-induced proteinuria and that this phenotype was rescued by human TBC1D8B mRNA injection, but not by either of the two mutated mRNAs. They also showed an interaction between TBC1D8B and Rab11b, a key protein in vesicular recycling in cells. Family A (Ecuador) - affected females (I-2 and II-2) exhibited non-nephrotic proteinuria, while affected boys (II-1, II-3, and II-4) developed congenital or early-onset NS. Family B (UK) - sporadic SRNS-affected individual (II-2) in family B. The affected individual (II-2), a male from European ancestry presenting with early-onset SRNS at the age of 2 years, had no other systemic features. Both mutations segregated with the affected status in the respective families and were, respectively, present in 1/27,314 (with no hemizygous) and absent from gnomAD database in the population-matched control subjects.; Changed publications: PMID: 30661770 |
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| Proteinuric renal disease v1.16 | TBC1D8B | Eleanor Williams reviewed gene: TBC1D8B: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 30661770 ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | TBC1D8B |
Eleanor Williams gene: TBC1D8B was added gene: TBC1D8B was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: TBC1D8B was set to |
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