Corneal abnormalities
Gene: PRDM5

PRDM5 (PR/SET domain 5)
EnsemblGeneIds (GRCh38): ENSG00000138738
EnsemblGeneIds (GRCh37): ENSG00000138738
OMIM: 614161, Gene2Phenotype
PRDM5 is in 4 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Publications

27032025

Created: 20 Apr 2017, 1:28 p.m.

Panel version: 1.0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green, and more than 3 cases/families reported, and different variants reported.
Created: 14 Feb 2017, 10:59 a.m.

Created: 14 Feb 2017, 10:59 a.m.

Panel version: 0.17

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brittle cornea syndrome

Publications

21664999

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
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Brittle Cornea Syndrome
Brittle cornea syndrome 2, 614170

OMIM

614161

Clinvar variants

Variants in PRDM5

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.

14 Feb 2017, Gel status: 4