Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Retinal disorders v5.15 SLC38A8 Mohammed Derar changed review comment from: 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.; to: 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 isolated foveal hypoplasia.
Retinal disorders v2.272 SLC38A8 Eleanor Williams commented on gene: SLC38A8: Green review from Mohammed Derar on green gene so no change in rating needed. Phenotypes updated.
Retinal disorders v2.272 SLC38A8 Eleanor Williams Phenotypes for gene: SLC38A8 were changed from 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 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; chiasmal misrouting
Retinal disorders v2.242 SLC38A8 Mohammed Derar reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: Poulter et al (2013) (PMID: 24290379), Campbell et al. (2019) (DOI: 31719542); Phenotypes: foveal hypoplasia, chiasmal misrouting, anterior segment dysgenesis, nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v2.23 SLC38A8 Eleanor Williams 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
Retinal disorders v2.22 SLC38A8 Eleanor Williams Publications for gene: SLC38A8 were set to 24290379; 24045842; 15466012; 24290379; 24045842
Retinal disorders v2.21 SLC38A8 Eleanor Williams reviewed gene: SLC38A8: Rating: ; Mode of pathogenicity: None; Publications: 32744312; 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 SLC38A8 Gavin Arno reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 SLC38A8 Ivone Leong Source NHS GMS was added to SLC38A8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders SLC38A8 Rebecca Foulger classified SLC38A8 as green
Retinal disorders SLC38A8 Rebecca Foulger commented on SLC38A8
Retinal disorders SLC38A8 Chris Campbell reviewed SLC38A8
Retinal disorders SLC38A8 Mervyn Thomas added SLC38A8 to panel
Retinal disorders SLC38A8 Mervyn Thomas reviewed SLC38A8