PITPNM3

PITPNM family member 3
OMIM: 608921, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red PITPNM3 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red PITPNM3 in Retinal disorders


Level 2: Ophthalmology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-Rod Dystrophy, Dominant
  • Cone-rod dystrophy 5, 600977
Red PITPNM3 in Structural eye disease


Level 2: Ophthalmology
Version 5.6
Latest signed off version: v5.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Cone-rod dystrophy 5, 600977
  • Eye Disorders