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Mackenzie's Mission_Reproductive Carrier Screening

Gene: CLDN19

Green List (high evidence)

CLDN19 (claudin 19)
EnsemblGeneIds (GRCh38): ENSG00000164007
EnsemblGeneIds (GRCh37): ENSG00000164007
OMIM: 610036, Gene2Phenotype
CLDN19 is in 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)
OMIM
610036
Clinvar variants
Variants in CLDN19
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLDN19 was added gene: CLDN19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)