PRDM5

PR/SET domain 5
OMIM: 614161, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PRDM5 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.12

review 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

Green PRDM5 in Corneal dystrophies


Version 1.13
Latest signed off version: v1.2 (19 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Brittle cornea syndrome 614170

Green PRDM5 in Ehlers Danlos syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 2.65
Latest signed off version: v2.3 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Brittle cornea syndrome 2, OMIM:614170

Red PRDM5 in Structural eye disease


Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Brittle cornea syndrome 2, 614170