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  2. Anophthalmia_Microphthalmia_Coloboma
  3. CLDN19
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Anophthalmia_Microphthalmia_Coloboma

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)

Macular coloboma is part of the phenotype.
Sources: Expert list
Created: 23 Dec 2019, 11:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 23 Dec 2019, 11:59 p.m.

Panel version: 0.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypomagnesemia 5, renal, with ocular involvement, MIM#248190
OMIM
610036
Clinvar variants
Variants in CLDN19
Penetrance
None
Panels with this gene

History Filter Activity

24 Dec 2019, 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).

24 Dec 2019, 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).

23 Dec 2019, Gel status: 1

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 Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list 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, MIM#248190 Review for gene: CLDN19 was set to GREEN