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  2. Corneal Dystrophy
  3. KERA
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Corneal Dystrophy

Gene: KERA

Green List (high evidence)
KERA (keratocan)
EnsemblGeneIds (GRCh38): ENSG00000139330
EnsemblGeneIds (GRCh37): ENSG00000139330
OMIM: 603288, Gene2Phenotype
KERA is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations.
Sources: Expert list
Created: 27 Jul 2020, 8:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cornea plana 2, autosomal recessive, MIM# 217300

Publications

Created: 27 Jul 2020, 8:22 a.m.

Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cornea plana 2, autosomal recessive, MIM# 217300
OMIM
603288
Clinvar variants
Variants in KERA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KERA was added gene: KERA was added to Corneal Dystrophy. Sources: Expert list Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KERA were set to 23834557; 11726611; 10802664 Phenotypes for gene: KERA were set to Cornea plana 2, autosomal recessive, MIM# 217300 Review for gene: KERA was set to GREEN