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| BabyScreen+ newborn screening v1.114 | KCNQ1OT1 | Tommy Li Added phenotypes Beckwith-Wiedemann syndrome for gene: KCNQ1OT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | KCNQ1 | Tommy Li Added phenotypes Jervell and Lange-Nielsen syndrome MIM#220400; Long QT syndrome 1, MIM# 192500 for gene: KCNQ1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2180 | KCNQ1 | Zornitza Stark Phenotypes for gene: KCNQ1 were changed from Long QT syndrome 1, MIM# 192500 to Jervell and Lange-Nielsen syndrome MIM#220400; Long QT syndrome 1, MIM# 192500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2179 | KCNQ1 | Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2178 | KCNQ1 | Zornitza Stark Tag deafness tag was added to gene: KCNQ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2177 | KCNQ1 | Lilian Downie reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301579; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1855 | KCNQ1 | Zornitza Stark Tag for review was removed from gene: KCNQ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1855 | KCNQ1 | Zornitza Stark Classified gene: KCNQ1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1855 | KCNQ1 | Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1854 | KCNQ1 | Zornitza Stark edited their review of gene: KCNQ1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1763 | KCNQ1 | Zornitza Stark Marked gene: KCNQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1763 | KCNQ1 | Zornitza Stark Gene: kcnq1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1763 | KCNQ1 | Zornitza Stark Phenotypes for gene: KCNQ1 were changed from Short QT syndrome 2, MIM# 609621; Jervell and Lange-Nielsen syndrome; Long QT syndrome 1, MIM# 192500; Long QT syndrome-1; Jervell and Lange-Nielsen syndrome, MIM# 220400 to Long QT syndrome 1, MIM# 192500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1762 | KCNQ1 |
Zornitza Stark Tag for review tag was added to gene: KCNQ1. Tag cardiac tag was added to gene: KCNQ1. Tag treatable tag was added to gene: KCNQ1. |
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| BabyScreen+ newborn screening v0.1762 | KCNQ1 | Zornitza Stark reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 1, MIM# 192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | KCNQ1OT1 |
Zornitza Stark gene: KCNQ1OT1 was added gene: KCNQ1OT1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: KCNQ1OT1 was set to Unknown Phenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome |
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| BabyScreen+ newborn screening v0.0 | KCNQ1 |
Zornitza Stark Source BabySeq Category B gene was added to KCNQ1. Source Expert Review Amber was added to KCNQ1. Source BabySeq Category A gene was added to KCNQ1. Mode of inheritance for gene KCNQ1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Jervell and Lange-Nielsen syndrome; Long QT syndrome-1 for gene: KCNQ1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | KCNQ1 |
Zornitza Stark gene: KCNQ1 was added gene: KCNQ1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KCNQ1 were set to Short QT syndrome 2, MIM# 609621; Long QT syndrome 1, MIM# 192500; Jervell and Lange-Nielsen syndrome, MIM# 220400 |
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