Unexplained young onset end-stage renal disease
Gene: SEC61A1Comment on list classification: Changing rating to green. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper (1 case) and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076Created: 11 Sep 2019, 12:54 p.m. | Last Modified: 11 Sep 2019, 12:54 p.m.
Panel Version: 0.36
Adding gene to panel at suggestion of Genomics England clinical team
Sources: OtherCreated: 11 Sep 2019, 12:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperuricemic nephropathy, familial juvenile, 4 617056
Publications
Gene: sec61a1 has been classified as Green List (High Evidence).
Publications for gene: SEC61A1 were set to 27392076
Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
gene: SEC61A1 was added gene: SEC61A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC61A1 were set to 27392076 Phenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4 617056