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BabyScreen+ newborn screening v0.1710 OTC Zornitza Stark Tag metabolic tag was added to gene: OTC.
BabyScreen+ newborn screening v0.719 OTC John Christodoulou reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hyperammonaemia, encephalopathy, liver failure; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.676 OTC Zornitza Stark Marked gene: OTC as ready
BabyScreen+ newborn screening v0.676 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.676 OTC Zornitza Stark Tag treatable tag was added to gene: OTC.
BabyScreen+ newborn screening v0.670 OTC David Amor reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 311250 Ornithine transcarbamylase deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
BabyScreen+ newborn screening v0.450 NOTCH3 Zornitza Stark Marked gene: NOTCH3 as ready
BabyScreen+ newborn screening v0.450 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.450 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310
BabyScreen+ newborn screening v0.449 NOTCH3 Zornitza Stark Classified gene: NOTCH3 as Red List (low evidence)
BabyScreen+ newborn screening v0.449 NOTCH3 Zornitza Stark Gene: notch3 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.448 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.448 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
BabyScreen+ newborn screening v0.448 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.448 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from Hajdu-Cheney syndrome to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
BabyScreen+ newborn screening v0.447 NOTCH2 Zornitza Stark Classified gene: NOTCH2 as Red List (low evidence)
BabyScreen+ newborn screening v0.447 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.446 NOTCH2 Zornitza Stark reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.274 NOTCH3 David Amor reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.274 NOTCH2 David Amor reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hajdu-Cheney syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
BabyScreen+ newborn screening v0.0 NOTCH1 Zornitza Stark gene: NOTCH1 was added
gene: NOTCH1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH1 were set to Aortic valve disease
BabyScreen+ newborn screening v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, MIM#311250
BabyScreen+ newborn screening v0.0 NOTCH3 Zornitza Stark gene: NOTCH3 was added
gene: NOTCH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
BabyScreen+ newborn screening v0.0 NOTCH2 Zornitza Stark gene: NOTCH2 was added
gene: NOTCH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome