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Mendeliome v0.12404 EMP2 Bryony Thompson Marked gene: EMP2 as ready
Mendeliome v0.12404 EMP2 Bryony Thompson Gene: emp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12404 EMP2 Bryony Thompson Phenotypes for gene: EMP2 were changed from to nephrotic syndrome, type 10 MONDO:0014373
Mendeliome v0.12403 EMP2 Bryony Thompson Publications for gene: EMP2 were set to
Mendeliome v0.12402 EMP2 Bryony Thompson Mode of inheritance for gene: EMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12401 EMP2 Bryony Thompson Classified gene: EMP2 as Amber List (moderate evidence)
Mendeliome v0.12401 EMP2 Bryony Thompson Gene: emp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12400 EMP2 Bryony Thompson reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24814193, 31508419; Phenotypes: nephrotic syndrome, type 10 MONDO:0014373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9619 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Mendeliome v0.9619 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Mendeliome v0.9619 EFEMP2 Zornitza Stark Phenotypes for gene: EFEMP2 were changed from to Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437
Mendeliome v0.9618 EFEMP2 Zornitza Stark Publications for gene: EFEMP2 were set to
Mendeliome v0.9617 EFEMP2 Zornitza Stark Mode of inheritance for gene: EFEMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9616 EFEMP2 Zornitza Stark reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30140196, 23532871, 31548410, 19664000; Phenotypes: Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 EMP2 Zornitza Stark gene: EMP2 was added
gene: EMP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EMP2 was set to Unknown
Mendeliome v0.0 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EFEMP2 was set to Unknown