SEMA4A

semaphorin 4A
OMIM: 607292, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SEMA4A 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
Amber SEMA4A in Retinal disorders


Level 2: Ophthalmology
Version 8.100
Latest signed off version: v8.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Eye Disorders
  • Cone-rod dystrophy 10, 610283
  • Retinitis pigmentosa 35, 610282
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa
Red SEMA4A in Structural eye disease


Level 2: Ophthalmology
Version 4.40
Latest signed off version: v4.0 (7 Aug 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 35, 610282
  • Cone-rod dystrophy 10, 610283
  • Eye Disorders