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  3. CLDN19
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Amelogenesis imperfecta

Gene: CLDN19

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dental anomalies on the AI spectrum are a feature of this primarily renal disorder.
Created: 13 Aug 2021, 1:20 a.m. | Last Modified: 13 Aug 2021, 1:20 a.m.
Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesaemia 5, renal, with ocular involvement, MIM# 248190

Publications

Created: 13 Aug 2021, 1:20 a.m.
Last Modified: 13 Aug 2021, 1:20 a.m.
Panel version: 0.54

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypomagnesaemia 5, renal, with ocular involvement, MIM# 248190
  • Amelogenesis imperfecta
OMIM
610036
Clinvar variants
Variants in CLDN19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cldn19 has been classified as Green List (High Evidence).

13 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLDN19 were changed from Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC) to Hypomagnesaemia 5, renal, with ocular involvement, MIM# 248190; Amelogenesis imperfecta

13 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cldn19 has been classified as Green List (High Evidence).

7 May 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLDN19 was added gene: CLDN19 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN19 were set to 27530400 Phenotypes for gene: CLDN19 were set to Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)