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Retinal disorders

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 3 panels

6 reviews

Mohammed Derar (University of Leeds)

Green List (high evidence)

Biallelic variants in SLC38A8 cause isolated foveal hypoplasia, chisamal misrouting in the absence of pigmentation defects. The variable phenotype being anterior segment dysgenesis (Poulter et al., 2013). Bare in mind chiasmal misrouting is not always reported due to lack of access to the visual evoked potentials (VEP) test, technical difficulty in performing the test on infants and inconsistent results during childhood (Campbell et al., 2019). The differential feature of SLC38A8 is the absence of pigmentation defects however assessing pigmentation status proves challenging especially in fair populations thus some genuine SLC38A8 cases are misdiagnosed as albinism (Campbell et al., 2019). Oculomotor defects such as nystagmus accompanies foveal hypoplasia in its syndromic and isolated forms.
Created: 7 Mar 2022, 6:49 p.m. | Last Modified: 7 Mar 2022, 6:49 p.m.
Panel Version: 2.242

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
foveal hypoplasia, chiasmal misrouting, anterior segment dysgenesis; nystagmus

Publications

Eleanor Williams (Genomics England Curator)

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, 3:21 p.m. | Last Modified: 2 Dec 2020, 3:21 p.m.
Panel Version: 2.21

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

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Grey to Green after review and advice from Chris Campbell: Gene was added and rated Green by Mervyn Thomas. >3 unrelated cases of SLC38A8 variants causing foveal hypoplasia (MIM:609218) which is relevant phenotype for panel.
Created: 21 Sep 2017, 7:54 a.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by OMIM.
Created: 21 Sep 2017, 7:52 a.m.

Chris Campbell (GEL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Foveal hypoplasia 2 with optic nerve misrouting with or without anterior segment dysgenesis

Publications

  • PMID:1546
  • 6012, 2429
  • 0379, 2404
  • 5842

Variants in this GENE are reported as part of current diagnostic practice

Mervyn Thomas (University of Leicester)

Green List (high evidence)

Associated with foveal hypoplasia. OMIM #609218
Created: 28 Nov 2016, 8:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
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
Complete
Publications
Panels with this gene

History Filter Activity

2 Dec 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 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

2 Dec 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SLC38A8 were set to 24290379; 24045842; 15466012; 24290379; 24045842

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC38A8. Rating Changed from Green List (high evidence) to Green List (high evidence)

21 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

21 Sep 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for SLC38A8 was changed to BIALLELIC, autosomal or pseudoautosomal

21 Sep 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SLC38A8 were set to 24290379; 24045842; 15466012; 24290379; 24045842

15 Aug 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218

28 Nov 2016, Gel status: 0

Added New Source

Mervyn Thomas (University of Leicester)

SLC38A8 was added to Posterior segment abnormalitiespanel. Sources: Literature

28 Nov 2016, Gel status: 0

Created

Mervyn Thomas (University of Leicester)

SLC38A8 was created by mgt14