SAG

S-antigen visual arrestin
OMIM: 181031, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SAG in Mendeliome


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Oguchi disease-1, MIM# 258100
  • Retinitis pigmentosa 47, autosomal recessive MIM# 613758
  • Retinitis pigmentosa 96, autosomal dominant, MIM# 620228

Amber SAG in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 1.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 47, autosomal recessive MIM# 613758
  • Retinitis pigmentosa 96, autosomal dominant, MIM# 620228
Tags
  • founder

Green SAG in Congenital Stationary Night Blindness


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Oguchi disease-1, MIM# 258100

Red SAG in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Oguchi disease-1, MIM# 258100