Unexplained young onset end-stage renal disease
Gene: DLG5
The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 2:13 p.m. | Last Modified: 2 May 2024, 2:13 p.m.
Panel Version: 4.3
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been added with green rating to R257 Unexplained young onset end-stage renal disease panel as it has already been rated green in Renal ciliopathies panel (https://panelapp.genomicsengland.co.uk/panels/725/).Created: 11 Jan 2024, 10:04 a.m. | Last Modified: 11 Jan 2024, 10:04 a.m.
Panel Version: 3.21
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DLG5-associated developmental disorder (biallelic); DLG5-associated developmental disorder (monoallelic)
Tag Q4_23_promote_green was removed from gene: DLG5.
Source Expert Review Green was added to DLG5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: DLG5 were changed from DLG5-associated developmental disorder (monoallelic); DLG5-associated developmental disorder (biallelic) to Yuksel-Vogel-Bauser syndrome, OMIM:620703
Tag Q4_23_promote_green tag was added to gene: DLG5.
gene: DLG5 was added gene: DLG5 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: DLG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DLG5 were set to DLG5-associated developmental disorder (monoallelic); DLG5-associated developmental disorder (biallelic)