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  3. CLDN2
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Pancreatitis

Gene: CLDN2

Red List (low evidence)
CLDN2 (claudin 2)
EnsemblGeneIds (GRCh38): ENSG00000165376
EnsemblGeneIds (GRCh37): ENSG00000165376
OMIM: 300520, Gene2Phenotype
CLDN2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Azoospermia: single multigenerational family reported.
Created: 24 Mar 2021, 7:47 p.m. | Last Modified: 24 Mar 2021, 7:47 p.m.
Panel Version: 1.1
Numerous publications linking common variants at this locus with susceptibility to pancreatitis. KO mice do not have a pancreatic phenotype. Likely polygenic susceptibility rather than Mendelian disorder.
Created: 27 Jul 2020, 1:49 a.m. | Last Modified: 27 Jul 2020, 1:49 a.m.
Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Susceptibility to pancreatitis; Azoospermia, obstructive, with nephrolithiasis, MIM# 301060

Publications

Created: 27 Jul 2020, 1:49 a.m.
Last Modified: 27 Jul 2020, 1:49 a.m.
Panel version: 1.5

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Susceptibility to pancreatitis
OMIM
300520
Clinvar variants
Variants in CLDN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cldn2 has been classified as Red List (Low Evidence).

27 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cldn2 has been classified as Amber List (Moderate Evidence).

27 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLDN2 were changed from to Susceptibility to pancreatitis

27 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLDN2 were set to

27 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CLDN2 was changed from Unknown to Other

27 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cldn2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLDN2 was added gene: CLDN2 was added to Pancreatitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLDN2 was set to Unknown