Albinism or congenital nystagmus
Gene: SLC38A8
PMID: 32744312 Kuht et al 2020 - used a custom-targeted next generation sequencing gene panel was used to identify SLC38A8 mutations from a cohort of 511 nystagmus patients. They report 16 novel SLC38A8 mutations in 11 subjects from nine families. 2 families had homozygous variants, the other 7 had compound het variants. There was a mixture of missense, splice variants and nonsense variants. 90% of cases were initially misdiagnosed, prior to NGS, as PAX6-related phenotype or ocular albinism. All patients had severe grades of arrested retinal development with lack of a foveal pit and no cone photoreceptor outer segment lengthening.Created: 2 Dec 2020, 3:19 p.m. | Last Modified: 2 Dec 2020, 3:19 p.m.
Panel Version: 1.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Publications
Associated with foveal hypoplasia (OMIM #615585). Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia, microphthalmia, albinism, or achromatopsia. All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014; PMID 24045842). Relevant publications: Poulter el al. 2013 (PMID 24290379), Perez et al. 2014 (PMID 24045842) and Lasseaux et al. 2018 (PMID 29345414).Created: 20 Mar 2019, 4:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR
Publications
Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR to 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
Publications for gene: SLC38A8 were set to 24290379; 29345414; 24045842
Source Expert Review Green was added to SLC38A8. Added phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR for gene: SLC38A8 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SLC38A8 was added gene: SLC38A8 was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC38A8 were set to 24290379; 29345414; 24045842 Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR