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Mendeliome v1.2025 EPB41L3 Bryony Thompson Marked gene: EPB41L3 as ready
Mendeliome v1.2025 EPB41L3 Bryony Thompson Gene: epb41l3 has been classified as Green List (High Evidence).
Mendeliome v1.2025 EPB41L3 Bryony Thompson Classified gene: EPB41L3 as Green List (high evidence)
Mendeliome v1.2025 EPB41L3 Bryony Thompson Gene: epb41l3 has been classified as Green List (High Evidence).
Mendeliome v1.2024 EPB41L3 Bryony Thompson gene: EPB41L3 was added
gene: EPB41L3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPB41L3 were set to 39292993
Phenotypes for gene: EPB41L3 were set to neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063
Review for gene: EPB41L3 was set to GREEN
Added comment: 6 cases from 5 unrelated consanguineous families (2nd & 3rd degree) with homozygous LoF variants and a neurodevelopmental condition, including ID and seizures. Epb41l3 shRNA-mediated downregulation in mouse oligodendroglia demonstrated impaired oligodendrocyte function.
Sources: Literature
Mendeliome v0.9057 EPB41 Zornitza Stark Marked gene: EPB41 as ready
Mendeliome v0.9057 EPB41 Zornitza Stark Gene: epb41 has been classified as Green List (High Evidence).
Mendeliome v0.9057 EPB41 Zornitza Stark Phenotypes for gene: EPB41 were changed from to Elliptocytosis-1, MIM# 611804
Mendeliome v0.9056 EPB41 Zornitza Stark Publications for gene: EPB41 were set to
Mendeliome v0.9055 EPB41 Zornitza Stark Mode of inheritance for gene: EPB41 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9054 EPB41 Zornitza Stark reviewed gene: EPB41: Rating: GREEN; Mode of pathogenicity: None; Publications: 33942936, 32807033, 27667160, 21839655; Phenotypes: Elliptocytosis-1, MIM# 611804; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1171 EPB41L1 Zornitza Stark Marked gene: EPB41L1 as ready
Mendeliome v0.1171 EPB41L1 Zornitza Stark Gene: epb41l1 has been classified as Red List (Low Evidence).
Mendeliome v0.1171 EPB41L1 Zornitza Stark Phenotypes for gene: EPB41L1 were changed from to Mental retardation, autosomal dominant 11, MIM# 614257
Mendeliome v0.1170 EPB41L1 Zornitza Stark Publications for gene: EPB41L1 were set to
Mendeliome v0.1169 EPB41L1 Zornitza Stark Mode of inheritance for gene: EPB41L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1168 EPB41L1 Zornitza Stark Classified gene: EPB41L1 as Red List (low evidence)
Mendeliome v0.1168 EPB41L1 Zornitza Stark Gene: epb41l1 has been classified as Red List (Low Evidence).
Mendeliome v0.1167 EPB41L1 Zornitza Stark reviewed gene: EPB41L1: Rating: RED; Mode of pathogenicity: None; Publications: 21376300, 26539891, 25961944; Phenotypes: Mental retardation, autosomal dominant 11, MIM# 614257; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.0 EPB41L1 Zornitza Stark gene: EPB41L1 was added
gene: EPB41L1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPB41L1 was set to Unknown
Mendeliome v0.0 EPB41 Zornitza Stark gene: EPB41 was added
gene: EPB41 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPB41 was set to Unknown