Activity

Filter

Cancel
Date Panel Item Activity
15 actions
BabyScreen+ newborn screening v1.114 PANK2 Tommy Li Added phenotypes Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200 for gene: PANK2
BabyScreen+ newborn screening v1.114 ANK2 Tommy Li Added phenotypes Complex neurodevelopmental disorder, MONDO:0100038 for gene: ANK2
BabyScreen+ newborn screening v0.746 PANK2 Zornitza Stark Marked gene: PANK2 as ready
BabyScreen+ newborn screening v0.746 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.746 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1 to Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200
BabyScreen+ newborn screening v0.745 PANK2 Zornitza Stark Classified gene: PANK2 as Red List (low evidence)
BabyScreen+ newborn screening v0.745 PANK2 Zornitza Stark Gene: pank2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.719 PANK2 David Amor reviewed gene: PANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.89 ANK2 Zornitza Stark Marked gene: ANK2 as ready
BabyScreen+ newborn screening v0.89 ANK2 Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.89 ANK2 Zornitza Stark Classified gene: ANK2 as Red List (low evidence)
BabyScreen+ newborn screening v0.89 ANK2 Zornitza Stark Gene: ank2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.88 ANK2 Zornitza Stark reviewed gene: ANK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.0 PANK2 Zornitza Stark gene: PANK2 was added
gene: PANK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1
BabyScreen+ newborn screening v0.0 ANK2 Zornitza Stark gene: ANK2 was added
gene: ANK2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Green
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK2 were set to Complex neurodevelopmental disorder, MONDO:0100038