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  3. CLDN16
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Amelogenesis imperfecta

Gene: CLDN16

Green List (high evidence)
CLDN16 (claudin 16)
EnsemblGeneIds (GRCh38): ENSG00000113946
EnsemblGeneIds (GRCh37): ENSG00000113946
OMIM: 603959, Gene2Phenotype
CLDN16 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Primarily a renal disorder, however note 5 individuals reported with AI phenotype. Mouse model supports specific role in enamel formation.
Created: 13 Aug 2021, 1:13 a.m. | Last Modified: 13 Aug 2021, 1:13 a.m.
Panel Version: 0.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesaemia 3, renal, MIM# 248250

Publications

Created: 13 Aug 2021, 1:13 a.m.
Last Modified: 13 Aug 2021, 1:13 a.m.
Panel version: 0.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypomagnesaemia 3, renal, MIM# 248250
  • Amelogenesis imperfecta
OMIM
603959
Clinvar variants
Variants in CLDN16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLDN16 were changed from Hypomagnesemia 3, renal, MIM# 248250; Amelogenesis imperfecta to Hypomagnesaemia 3, renal, MIM# 248250; Amelogenesis imperfecta

13 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cldn16 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: CLDN16 were changed from Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC) to Hypomagnesemia 3, renal, MIM# 248250; Amelogenesis imperfecta

13 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cldn16 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: CLDN16 was added gene: CLDN16 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN16 were set to 26426912 Phenotypes for gene: CLDN16 were set to Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)