Albinism or congenital nystagmus

Gene: SLC24A5

Green List (high evidence)

SLC24A5 (solute carrier family 24 member 5)
EnsemblGeneIds (GRCh38): ENSG00000188467
EnsemblGeneIds (GRCh37): ENSG00000188467
OMIM: 609802, Gene2Phenotype
SLC24A5 is in 7 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type VI
  • Non-Syndromic Oculocutaneous Albinism
OMIM
609802
Clinvar variants
Variants in SLC24A5
Penetrance
None
Publications
  • 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism
  • 27129268 - functional data to support the phenotypic effects of variants reported
  • 23364476 - case report of patient of Chinese origin
  • 26686029 case identified in a cohort South-Italian origin
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC24A5 was added gene: SLC24A5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC24A5 were set to 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism; 27129268 - functional data to support the phenotypic effects of variants reported; 23364476 - case report of patient of Chinese origin; 26686029 case identified in a cohort South-Italian origin Phenotypes for gene: SLC24A5 were set to Albinism, oculocutaneous, type VI; Non-Syndromic Oculocutaneous Albinism