All individuals with variants in gene TRIM8

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     
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00332236 S1666 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe - - - - ? 2y2m-onset renal disease; 3y-onset end-stage renal disease; steroid-resistant nephrotic syndrome; biopsy focal segmental glomerulosclerosis; 7.5y-transplant, transplant rejection; 2.2y-onset developmental delay; 4.5y-onset epilepsy; epilepsy, global developmental delay, mild cerebral and cerebellar atrophy 1 1 LOVD
00332237 F827 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - ? 4y6m-onset renal disease; 4.8y-onset end-stage renal disease; steroid-resistant nephrotic syndrome; biopsy focal segmental glomerulosclerosis; 5y-transplant, no rejection; 1y-onset developmental delay; 2.5y-onset epilepsy; epilepsy, global developmental delay, cerebral atrophy 1 1 LOVD
00332238 A4582 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - ? 1d-onset renal disease; 1.1y-onset end-stage renal disease; steroid-resistant nephrotic syndrome; biopsy diffuse mesangial sclerosis; 4.9y-transplant, no rejection; <1y-onset developmental delay; 2y-onset epilepsy; epilepsy, global developmental delay, cerebral atrophy, hypotonia 1 1 LOVD
00332239 FSGSGE126 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - ? 13y9m-onset renal disease; 19.7y-onset end-stage renal disease; steroid-resistant nephrotic syndrome; biopsy focal segmental glomerulosclerosis; 1.5y-onset developmental delay; 1.5y-onset epilepsy; epilepsy, posterior fossa dilatation and cerebral atrophy, spastic dystonic quadriplegia 1 1 LOVD
00332240 UC-023-1 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea - - - - - ? 4y-onset renal disease; 5y-onset end-stage renal disease; steroid-resistant nephrotic syndrome; biopsy focal segmental glomerulosclerosis; 7y-transplant, no rejection; <1y-onset developmental delay; 2y-onset epilepsy; epilepsy, global developmental delay, autism 1 1 LOVD
00332241 HN-F65 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - ? 7y11m-onset renal disease; 9.8y-onset end-stage renal disease; hypertension; nephrotic-range proteinuria; steroid resistant; biopsy focal segmental glomerulosclerosis; 2.5y-onset developmental delay; 2.5y-onset epilepsy; epilepsy, global developmental delay, secondary microcephaly 1 1 LOVD
00332242 B1117b PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Hispanic - - - - ? 2y6m-onset renal disease; >5y-onset end-stage renal disease; steroid-resistant nephrotic syndrome; biopsy focal segmental glomerulosclerosis; <1y-onset developmental delay; 2.5y-onset epilepsy; epilepsy, global developmental delay 1 1 LOVD
00332243 B3883 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Middle East - - - - ? 6y-onset renal disease; 8y-onset end-stage renal disease; nephrotic-range proteinuria; biopsy focal segmental glomerulosclerosis; 0.5y-onset developmental delay; 1.5y-onset epilepsy; epilepsy, global developmental delay, cerebral, cerebellar and brainstem atrophy, hypotonia 1 1 LOVD
00332244 FG-FAc PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Ireland;Hispanic - - - - ? 6y-onset renal disease; 14y-onset end-stage renal disease; steroid-resistant nephrotic syndrome; biopsy focal segmental glomerulosclerosis; 14y-transplant, no rejection; 1.5y-onset developmental delay; NA; mild global developmental delay, Tourette’s syndrome-like symptoms, autism spectrum 1 1 LOVD
00332245 RAP027 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe;Asia-South - - - - ? 3y-onset renal disease; 5y-onset end-stage renal disease; steroid-resistant nephrotic syndrome; biopsy diffuse mesangial sclerosis; 1y-onset developmental delay; 3y-onset epilepsy; global developmental delay, seizures, mild cerebral and cerebellar atrophy 1 1 LOVD
00332246 DUKEPIMIK01 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States African American - - - - ? 11y-onset renal disease; 12y-onset end-stage renal disease; nephrotic syndrome; biopsy focal segmental glomerulosclerosis; 12.5y-transplant; 0.5y-onset developmental delay; 2y-onset epilepsy; epilepsy, global developmental delay 1 1 LOVD
00332247 UDN171252 PubMed: Weng 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe - - - - ? 3y-onset renal disease; 5y-onset end-stage renal disease; nephrotic syndrome; biopsy focal segmental glomerulosclerosis; <1y-onset developmental delay; 2.5y-onset epilepsy; epilepsy, global developmental delay, mesial temporal sclerosis 1 1 LOVD
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