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Date	Panel	Item	Activity
Filter activities 16 actions
14 Dec 2022	BabyScreen+ newborn screening v0.1420	SLC2A1	Zornitza Stark Tag treatable tag was added to gene: SLC2A1. Tag neurological tag was added to gene: SLC2A1.
14 Dec 2022	BabyScreen+ newborn screening v0.1420	SLC2A1	Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
12 Dec 2022	BabyScreen+ newborn screening v0.1327	SLC2A10	Seb Lunke Marked gene: SLC2A10 as ready
12 Dec 2022	BabyScreen+ newborn screening v0.1327	SLC2A10	Seb Lunke Gene: slc2a10 has been classified as Red List (Low Evidence).
12 Dec 2022	BabyScreen+ newborn screening v0.1327	SLC2A10	Seb Lunke Phenotypes for gene: SLC2A10 were changed from Arterial tortuosity syndrome to Arterial tortuosity syndrome MIM#208050
12 Dec 2022	BabyScreen+ newborn screening v0.1326	SLC2A10	Seb Lunke Classified gene: SLC2A10 as Red List (low evidence)
12 Dec 2022	BabyScreen+ newborn screening v0.1326	SLC2A10	Seb Lunke Gene: slc2a10 has been classified as Red List (Low Evidence).
12 Dec 2022	BabyScreen+ newborn screening v0.1325	SLC2A10	Seb Lunke reviewed gene: SLC2A10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome MIM#208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
12 Dec 2022	BabyScreen+ newborn screening v0.1325	SLC2A1	Seb Lunke Marked gene: SLC2A1 as ready
12 Dec 2022	BabyScreen+ newborn screening v0.1325	SLC2A1	Seb Lunke Gene: slc2a1 has been classified as Green List (High Evidence).
12 Dec 2022	BabyScreen+ newborn screening v0.1325	SLC2A1	Seb Lunke Added comment: Comment on mode of inheritance: Review if bi-allelic form is indeed relevant for NBS
12 Dec 2022	BabyScreen+ newborn screening v0.1325	SLC2A1	Seb Lunke Mode of inheritance for gene: SLC2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
12 Dec 2022	BabyScreen+ newborn screening v0.1324	SLC2A1	Seb Lunke Mode of inheritance for gene: SLC2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
12 Dec 2022	BabyScreen+ newborn screening v0.1323	SLC2A1	Seb Lunke reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM#606777, Dystonia 9, MIM#601042, GLUT1 deficiency syndrome 2, childhood onset, MIM#612126; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
18 Sep 2022	BabyScreen+ newborn screening v0.0	SLC2A10	Zornitza Stark gene: SLC2A10 was added gene: SLC2A10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome
18 Sep 2022	BabyScreen+ newborn screening v0.0	SLC2A1	Zornitza Stark gene: SLC2A1 was added gene: SLC2A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 2, childhood onset, 612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777