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Corneal abnormalities

Gene: KRT3

Green List (high evidence)
KRT3 (keratin 3)
EnsemblGeneIds (GRCh38): ENSG00000186442
EnsemblGeneIds (GRCh37): ENSG00000186442
OMIM: 148043, Gene2Phenotype
KRT3 is in 3 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green and 3 families reported.
Created: 21 Feb 2017, 10:08 a.m.
Created: 21 Feb 2017, 10:08 a.m.

Panel version: 0.97

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Meesman corneal dystrophy, AD, paediatric

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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GDL Corneal Abnormalities panel
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meesmann corneal dystrophy, 122100
OMIM
148043
Clinvar variants
Variants in KRT3
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.

21 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).

21 Feb 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for KRT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 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).

21 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KRT3 were set to 18806880;9171831;16227835

21 Feb 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KRT3 were set to 18806880;9171831;16227835

19 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT3 was added to Corneal abnormalitiespanel. Source: GDL Corneal Abnormalities panel

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

KRT3 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen