PRDM5

PR/SET domain 5
OMIM: 614161, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PRDM5 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Brittle cornea syndrome 2, MIM#614170

Green PRDM5 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brittle cornea syndrome 2, MIM# 614170

Green PRDM5 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brittle cornea syndrome 2, MIM# 614170

Green PRDM5 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brittle cornea syndrome 2, 614170 (3)

Green PRDM5 in Ehlers Danlos syndromes


Level 2: Cardiovascular disorders
Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • International EDS Consortium
  • Expert Review Green
Phenotypes
  • Brittle cornea syndrome 2, 614170

Green PRDM5 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brittle cornea syndrome 2, 614170 (3)

Green PRDM5 in Prepair 500+


Level 2: Screening
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Brittle cornea syndrome 2, 614170 (3)