PRDM15

PR/SET domain 15
OMIM: 617692, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PRDM15 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.57

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Galloway-Mowat syndrome MONDO:0009627, PRDM15-related

Amber PRDM15 in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Literature
Phenotypes
  • Holoprosenephaly
  • Steroid resistant nephrotic syndrome
  • Multiple congenital anomalies

Green PRDM15 in Mendeliome


Version 1.4559

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Galloway-Mowat syndrome MONDO:0009627, PRDM15-related

Green PRDM15 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.420

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Galloway-Mowat syndrome MONDO:0009627, PRDM15-related

Amber PRDM15 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.239

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Literature
    Phenotypes
    • Steroid resistant nephrotic syndrome

    Amber PRDM15 in Fetal anomalies


    Version 1.543

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Holoprosenephaly
    • Steroid resistant nephrotic syndrome
    • Multiple congenital anomalies