| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genomic newborn screening: ICoNS v0.25 | GALK1 | Zornitza Stark Marked gene: GALK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.25 | GALK1 | Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.25 | GALK1 | Zornitza Stark Phenotypes for gene: GALK1 were changed from very early-onset cataract to Galactokinase deficiency with cataracts MIM#230200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.24 | GALK1 | Zornitza Stark Publications for gene: GALK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.23 | GALK1 | Zornitza Stark Classified gene: GALK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.23 | GALK1 | Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.22 | GALK1 | Zornitza Stark reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.16 | GALK1 |
François BOEMER changed review comment from: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. Disorder is included in the RUSP as a secondary condition. NBS could be performed by gNBS, or by quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients. GALK1 is curated by ClinGen. Only SNPs variants are described in Clinvar, mainly in the coding or intronic-boundaries regions ; to: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. Disorder is included in the RUSP as a secondary condition. NBS could be performed by gNBS, or by quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients. GALK1 is curated by ClinGen. Only SNPs variants (> 500) are described in Clinvar, mainly in the coding or intronic-boundaries regions |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.16 | GALK1 | François BOEMER edited their review of gene: GALK1: Changed phenotypes: Early-onset cataract | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.16 | GALK1 |
François BOEMER changed review comment from: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. Disorder is included in the RUSP as a secondary condition. NBS could be performed by gNBS, or quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients.; to: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. Disorder is included in the RUSP as a secondary condition. NBS could be performed by gNBS, or by quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients. GALK1 is curated by ClinGen. Only SNPs variants are described in Clinvar, mainly in the coding or intronic-boundaries regions |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.16 | GALK1 |
François BOEMER changed review comment from: Included in the RUSP as a secondary condition. Development of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. Sources: Expert Review; to: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. Disorder is included in the RUSP as a secondary condition. NBS could be performed by gNBS, or quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.16 | GALK1 | François BOEMER edited their review of gene: GALK1: Changed publications: PMID: 32807972 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.16 | GALK1 |
François BOEMER changed review comment from: Included in the RUSP as a secondary condition. Development of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. Sources: Expert Review; to: Included in the RUSP as a secondary condition. Development of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.16 | GALK1 |
François BOEMER gene: GALK1 was added gene: GALK1 was added to Genomic newborn screening: ICoNS. Sources: Expert Review Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALK1 were set to very early-onset cataract Penetrance for gene: GALK1 were set to Complete Review for gene: GALK1 was set to GREEN Added comment: Included in the RUSP as a secondary condition. Development of cataracts appears to be fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||