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  3. KERA
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Corneal abnormalities

Gene: KERA

Green List (high evidence)
KERA (keratocan)
EnsemblGeneIds (GRCh38): ENSG00000139330
EnsemblGeneIds (GRCh37): ENSG00000139330
OMIM: 603288, Gene2Phenotype
KERA is in 3 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green, and more than 3 cases/family reports.
Created: 20 Feb 2017, 5:53 p.m.
Created: 20 Feb 2017, 5:53 p.m.

Panel version: 0.89

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cornea plana (AR)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cornea plana 2, autosomal recessive 217300
OMIM
603288
Clinvar variants
Variants in KERA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for KERA was changed to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KERA were set to Cornea plana 2, autosomal recessive 217300

20 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KERA were set to 10802664; 23834557; 11726611;15370545;23834557

20 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KERA were set to 10802664; 23834557;11726611

20 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KERA were set to 10802664;23834557

19 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KERA was added to Corneal abnormalitiespanel. Source: GDL Corneal Abnormalities panel

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

KERA was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen