PRR12

proline rich 12
OMIM: 616633, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PRR12 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuroocular syndrome, MIM#619539
  • Complex microphthalmia

Green PRR12 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuroocular syndrome, MIM#619539
  • Intellectual disability
  • Iris abnormalities
  • Complex microphthalmia

Green PRR12 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuroocular syndrome, MIM#619539
  • Intellectual disability
  • Iris abnormalities
  • Complex microphthalmia

Green PRR12 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neuroocular syndrome, MIM#619539
  • Complex microphthalmia