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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

4 reviews

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, 609218
OMIM
615585
Clinvar variants
Variants in SLC38A8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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