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| BabyScreen+ newborn screening v0.1865 | GATA4 | Ari Horton reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, Congenital Heart Disease, Arrhythmia, Extra-cardiac Manifestations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1699 | GATA4 | Zornitza Stark Phenotypes for gene: GATA4 were changed from Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 to Neonatal diabetes mellitus, MONDO:0016391, GATA4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1698 | GATA4 |
Zornitza Stark Tag treatable tag was added to gene: GATA4. Tag endocrine tag was added to gene: GATA4. |
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| BabyScreen+ newborn screening v0.1698 | GATA4 |
Zornitza Stark changed review comment from: Expect to be able to distinguish between the two phenotypes clinically in the newborn period.; to: Expect to be able to distinguish between the two phenotypes clinically in the newborn period. Included here for association with neonatal diabetes. |
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| BabyScreen+ newborn screening v0.662 | GATA4 | Zornitza Stark Marked gene: GATA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.662 | GATA4 | Zornitza Stark Gene: gata4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.662 | GATA4 | Zornitza Stark Phenotypes for gene: GATA4 were changed from Congenital heart defects to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.661 | GATA4 | Zornitza Stark Tag for review was removed from gene: GATA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.661 | GATA4 | Zornitza Stark reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.606 | GATA4 |
Alison Yeung changed review comment from: Well-established gene-disease association for congenital heart defects and neonatal diabetes Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects Severity: variable defects. No syndromic features, no association with arrhythmias Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes; to: Well-established gene-disease association for congenital heart defects and neonatal diabetes Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects Severity: variable defects. No syndromic features, no association with arrhythmias Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes |
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| BabyScreen+ newborn screening v0.606 | GATA4 |
Alison Yeung changed review comment from: Well-established gene-disease association Onset: infancy (congenital heart defects) but variable expressivity and incomplete penetrance common Severity: variable defects. No syndromic features, no association with arrhythmias Treatment: Echocardiogram and surgical repair; to: Well-established gene-disease association for congenital heart defects and neonatal diabetes Onset: infancy but variable expressivity and incomplete penetrance common for cardiac defects Severity: variable defects. No syndromic features, no association with arrhythmias Treatment: Echocardiogram and surgical repair for cardiac defects; Insulin for neonatal diabetes |
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| BabyScreen+ newborn screening v0.606 | GATA4 | Alison Yeung Tag for review tag was added to gene: GATA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.606 | GATA4 | Alison Yeung reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | GATA4 |
Zornitza Stark gene: GATA4 was added gene: GATA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA4 were set to Congenital heart defects |
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