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 1.45

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

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.6
Latest signed off version: v5.0 (1 May 2024)

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


Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

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