SLC38A8

solute carrier family 38 member 8
OMIM: 615585, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green SLC38A8 in Albinism or congenital nystagmus Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	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 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.89 Latest signed off version: v4.0 (22 Mar 2023)	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 Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	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