Likely inborn error of metabolism - targeted testing not possible
Gene: CLDN19Comment on phenotypes: Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)Created: 12 Aug 2019, 1:56 p.m. | Last Modified: 12 Aug 2019, 1:56 p.m.
Panel Version: 1.95
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in at least 6 unrelated cases.Created: 12 Aug 2019, 1:53 p.m. | Last Modified: 12 Aug 2019, 1:53 p.m.
Panel Version: 1.93
Phenotypes for gene: CLDN19 were changed from Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) to Hypomagnesemia 5, renal, with ocular involvement 248190
Publications for gene: CLDN19 were set to 27604308; 22422540; 17033971
Publications for gene: CLDN19 were set to 27604308
Gene: cldn19 has been classified as Green List (High Evidence).
Source NHS GMS was added to CLDN19. Source London North GLH was added to CLDN19.
Sarah Leigh: Associated with relevant pheno
gene: CLDN19 was added gene: CLDN19 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN19 were set to 27604308 Phenotypes for gene: CLDN19 were set to Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)