SLC45A2

solute carrier family 45 member 2
OMIM: 606202, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green SLC45A2 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 IV, MIM# 606574
  • MONDO:0011683

Green SLC45A2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type IV, MIM# 606574
  • MONDO:0011683

Green SLC45A2 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 IV, 606574 (3)

Green SLC45A2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Oculocutaneous albinism, type IV

Green SLC45A2 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 IV, MIM# 606574
  • MONDO:0011683

Green SLC45A2 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 IV, 606574 (3)

Red SLC45A2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Albinism, oculocutaneous, type IV, MIM# 606574

Green SLC45A2 in Prepair 500+


Level 2: Screening
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Albinism, oculocutaneous, type IV, 606574 (3)