SLC38A8

solute carrier family 38 member 8
OMIM: 615585, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SLC38A8 in Albinism or congenital nystagmus


Level 2: Ophthalmology
Version 4.13
Latest signed off version: v4.12 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218
  • foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
Green SLC38A8 in Retinal disorders


Level 2: Ophthalmology
Version 9.19
Latest signed off version: v9.14 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218
  • foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
  • chiasmal misrouting
Green SLC38A8 in Structural eye disease


Level 2: Ophthalmology
Version 5.8
Latest signed off version: v5.7 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218
  • foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216