Unexplained young onset end-stage renal disease
Gene: CNNM2
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 R198 Renal tubulopathies panel (https://panelapp.genomicsengland.co.uk/panels/292/).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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
renal hypomagnesemia 6, MONDO:0013480; Hypomagnesemia, seizures, and mental retardation, MONDO:0014631; Hypomagnesemia 6, renal, OMIM:613882; Hypomagnesemia, seizures, and mental retardation, OMIM:616418
Tag Q4_23_promote_green tag was added to gene: CNNM2.
gene: CNNM2 was added gene: CNNM2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: CNNM2 were set to Hypomagnesemia, seizures, and mental retardation, OMIM:616418; renal hypomagnesemia 6, MONDO:0013480; Hypomagnesemia, seizures, and mental retardation, MONDO:0014631; Hypomagnesemia 6, renal, OMIM:613882 Mode of pathogenicity for gene: CNNM2 was set to Other