Foveal Hypoplasia
Gene: SLC38A8EnsemblGeneIds (GRCh38): ENSG00000166558
EnsemblGeneIds (GRCh37): ENSG00000166558
OMIM: 615585, Gene2Phenotype
SLC38A8 is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: 3 Dec 2020, 4:43 a.m. | Last Modified: 3 Dec 2020, 4:43 a.m.
Panel Version: 0.5
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
Bryony Thompson (Royal Melbourne Hospital)
At least 10 families reported with foveal hypoplasia as the main feature of the condition.
Sources: Expert listCreated: 22 May 2020, 4:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis MIM#609218
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- 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
- OMIM
- 615585
- Clinvar variants
- Variants in SLC38A8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis MIM#609218 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC38A8 were set to 24045842; 24290379
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc38a8 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc38a8 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC38A8 was added gene: SLC38A8 was added to Foveal Hypoplasia. Sources: Expert list Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC38A8 were set to 24045842; 24290379 Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis MIM#609218 Review for gene: SLC38A8 was set to GREEN