Retinal disordersGene: SLC38A8
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Foveal hypoplasia 2 with optic nerve misrouting with or without anterior segment dysgenesis
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to SLC38A8. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SLC38A8 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for SLC38A8 were set to 24290379; 24045842; 15466012; 24290379; 24045842
Phenotypes for SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218
SLC38A8 was added to Posterior segment abnormalitiespanel. Sources: Literature
SLC38A8 was created by mgt14