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| BabyScreen+ newborn screening v0.1682 | COL4A4 | Zornitza Stark Marked gene: COL4A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1682 | COL4A4 | Zornitza Stark Gene: col4a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1682 | COL4A4 | Zornitza Stark Phenotypes for gene: COL4A4 were changed from Alport syndrome to Alport syndrome 2, autosomal recessive MIM#203780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1681 | COL4A4 |
Zornitza Stark Tag treatable tag was added to gene: COL4A4. Tag renal tag was added to gene: COL4A4. |
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| BabyScreen+ newborn screening v0.1681 | COL4A4 |
Zornitza Stark changed review comment from: Assessed as 'strongly actionable' in paediatric patients by ClinGen. Treatment: ACE inhibitors alter long-term outcomes. Individuals with AR AS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria.; to: Well established gene-disease association. Assessed as 'strongly actionable' in paediatric patients by ClinGen. Treatment: ACE inhibitors alter long-term outcomes. Individuals with AR AS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria. |
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| BabyScreen+ newborn screening v0.1681 | COL4A4 |
Zornitza Stark changed review comment from: Assessed as 'strongly actionable' in paediatric patients by ClinGen. Treatment: ACE inhibitors alter long-term outcomes. Males with XLAS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria. Guidelines differ slightly for the initiation of treatment in females with XLAS; one guideline recommends initiation of treatment at onset of microalbuminuria while a second recommends initiation at onset of microalbuminuria, hypertension, or renal impairment.; to: Assessed as 'strongly actionable' in paediatric patients by ClinGen. Treatment: ACE inhibitors alter long-term outcomes. Individuals with AR AS are recommended to be treated with ACEi at diagnosis (if older than 12-24 months), even before the onset of proteinuria. |
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| BabyScreen+ newborn screening v0.1681 | COL4A4 | Zornitza Stark edited their review of gene: COL4A4: Changed rating: GREEN; Changed phenotypes: Alport syndrome 2, autosomal recessive MIM#203780; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1681 | COL4A4 | Zornitza Stark commented on gene: COL4A4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | COL4A4 |
Zornitza Stark gene: COL4A4 was added gene: COL4A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to Alport syndrome |
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