SLC24A5

solute carrier family 24 member 5
OMIM: 609802, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SLC24A5 in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type VI, MIM# 113750

Green SLC24A5 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type VI, MIM# 113750

Green SLC24A5 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Albinism, oculocutaneous, type VI, 113750 (3)

Green SLC24A5 in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 1.21

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type VI, MIM# 113750

Green SLC24A5 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Albinism, oculocutaneous, type VI, 113750 (3)