Albinism or congenital nystagmus

Gene: SLC45A2

Green List (high evidence)

SLC45A2 (solute carrier family 45 member 2)
EnsemblGeneIds (GRCh38): ENSG00000164175
EnsemblGeneIds (GRCh37): ENSG00000164175
OMIM: 606202, Gene2Phenotype
SLC45A2 is in 10 panels

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Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Oculocutaneous albinism type IV,606574
  • skin/hair/eye pigmentation 5,227240
  • Albinism, oculocutaneous, type IV
  • Oculocutaneous Albinism
Clinvar variants
Variants in SLC45A2
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC45A2 was added gene: SLC45A2 was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC45A2 were set to Oculocutaneous albinism type IV,606574; skin/hair/eye pigmentation 5,227240; Albinism, oculocutaneous, type IV; Oculocutaneous Albinism