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Foveal Hypoplasia v1.0 SLC38A8 Gene migrated from ENSG00000166558 to ENSG00000166558 (gene set migration)
Foveal Hypoplasia v1.0 PAX6 Gene migrated from ENSG00000007372 to ENSG00000007372 (gene set migration)
Foveal Hypoplasia v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.8
Foveal Hypoplasia v0.8 Zornitza Stark HPO terms changed from to Abnormal foveal morphology, HP:0000493
List of related panels changed from to Abnormal foveal morphology; HP:0000493
Foveal Hypoplasia v0.7 SLC38A8 Zornitza Stark Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis MIM#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
Foveal Hypoplasia v0.6 SLC38A8 Zornitza Stark Publications for gene: SLC38A8 were set to 24045842; 24290379
Foveal Hypoplasia v0.5 SLC38A8 Zornitza Stark reviewed gene: SLC38A8: Rating: GREEN; 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
Foveal Hypoplasia v0.5 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Foveal Hypoplasia v0.4 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Foveal Hypoplasia v0.4 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Foveal Hypoplasia v0.4 SLC38A8 Zornitza Stark Marked gene: SLC38A8 as ready
Foveal Hypoplasia v0.4 SLC38A8 Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence).
Foveal Hypoplasia v0.4 PAX6 Bryony Thompson reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15629294, 9931324, 31861090; Phenotypes: Foveal hypoplasia 1 MIM#136520; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Foveal Hypoplasia v0.4 PAX6 Bryony Thompson Classified gene: PAX6 as Green List (high evidence)
Foveal Hypoplasia v0.4 PAX6 Bryony Thompson Gene: pax6 has been classified as Green List (High Evidence).
Foveal Hypoplasia v0.3 PAX6 Bryony Thompson gene: PAX6 was added
gene: PAX6 was added to Foveal Hypoplasia. Sources: Expert list
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX6 were set to Foveal hypoplasia 1 MIM#136520
Foveal Hypoplasia v0.2 SLC38A8 Bryony Thompson Classified gene: SLC38A8 as Green List (high evidence)
Foveal Hypoplasia v0.2 SLC38A8 Bryony Thompson Gene: slc38a8 has been classified as Green List (High Evidence).
Foveal Hypoplasia v0.1 SLC38A8 Bryony Thompson gene: SLC38A8 was added
gene: SLC38A8 was added to Foveal Hypoplasia. Sources: Expert list
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC38A8 were set to 24045842; 24290379
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis MIM#609218
Review for gene: SLC38A8 was set to GREEN
Added comment: At least 10 families reported with foveal hypoplasia as the main feature of the condition.
Sources: Expert list
Foveal Hypoplasia v0.0 Bryony Thompson Added Panel Foveal Hypoplasia
Set panel types to: Royal Melbourne Hospital; Rare Disease