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Gene: SLC38A8

Green List (high evidence)
SLC38A8 (solute carrier family 38 member 8)
EnsemblGeneIds (GRCh38): ENSG00000166558
EnsemblGeneIds (GRCh37): ENSG00000166558
OMIM: 615585, Gene2Phenotype
SLC38A8 is in 7 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

More than 10 families reported.

Characterised by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, occasionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.
Created: 3 Oct 2024, 5:16 a.m. | Last Modified: 3 Oct 2024, 5:16 a.m.
Panel Version: 1.359

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

Created: 3 Oct 2024, 5:16 a.m.
Last Modified: 3 Oct 2024, 5:16 a.m.
Panel version: 1.359

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
OMIM
615585
Clinvar variants
Variants in SLC38A8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: slc38a8 has been classified as Green List (High Evidence).

5 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: SLC38A8 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3) for gene: SLC38A8

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC38A8 was added gene: SLC38A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)