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| Genomic screening in children: BabyScreen+ v0.29 | HGD | Zornitza Stark Marked gene: HGD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.29 | HGD | Zornitza Stark Gene: hgd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.29 | HGD | Zornitza Stark Phenotypes for gene: HGD were changed from to Alkaptonuria MIM#203500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.28 | HGD | Zornitza Stark Classified gene: HGD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.28 | HGD | Zornitza Stark Gene: hgd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.27 | HGD |
Zornitza Stark Tag treatable tag was added to gene: HGD. Tag metabolic tag was added to gene: HGD. |
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| Genomic screening in children: BabyScreen+ v0.27 | HGD |
Zornitza Stark edited their review of gene: HGD: Added comment: Well established gene-disease association. Progressive metabolic disorder; however, symptoms generally appear in adulthood. Treatable: Nitisinone, diet Low dose nitisinone greatly reduces homogentisic acid levels and if started early will probably prevent the clinical abnormalities from developing, hence potential benefit from screening in childhood. Dark urine also tends to manifest in childhood.; Changed phenotypes: Alkaptonuria MIM#203500 |
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| Genomic screening in children: BabyScreen+ v0.8 | HGD |
Zornitza Stark gene: HGD was added gene: HGD was added to Genomic screening in children: BabyScreen+. Sources: Expert list Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: HGD was set to GREEN Added comment: Sources: Expert list |
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