MAK

male germ cell associated kinase
OMIM: 154235, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red MAK 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
Green MAK in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Retinitis pigmentosa 62, 614181
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Red MAK in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 62, 614181
  • Eye Disorders