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| BabyScreen+ newborn screening v1.114 | LARS2 | Tommy Li Added phenotypes Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Perrault syndrome 4, MIM# 615300 for gene: LARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | LARS | Tommy Li Added phenotypes Infantile liver failure syndrome for gene: LARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | CHST3 | Tommy Li Added phenotypes Larsen syndrome for gene: CHST3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.114 | ALDH3A2 | Tommy Li Added phenotypes Sjogren-Larsson syndrome MIM#270200 for gene: ALDH3A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1425 | DMD |
Zornitza Stark changed review comment from: Well established gene-disease association. Milder phenotypes such as BMD and DCM are also associated with variants in this gene. Females typically at risk for cardiac disease only. Onset in early childhood. Treatment: Eteplirsen, Casimersen and Golodirsen for exon skipping 51, 45 and 53, respectively. Vitolarsen has also been approved for exon 53 skipping. Pilots are underway to assess NBS for DMD, including one planned in NSW. Most programs are based on raised CK levels. For review.; to: Well established gene-disease association. Milder phenotypes such as BMD and DCM are also associated with variants in this gene. Females typically at risk for cardiac disease only. Onset in early childhood. Treatment: Eteplirsen, Casimersen and Golodirsen for exon skipping 51, 45 and 53, respectively. Vitolarsen has also been approved for exon 53 skipping. Pilots are underway to assess NBS for DMD, including one planned in NSW. Most programs are based on raised CK levels. For review. Discuss with neurology. Should we only report variants that are likely to benefit from treatment? |
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| BabyScreen+ newborn screening v0.222 | LARS2 | Zornitza Stark Marked gene: LARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.222 | LARS2 | Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.222 | LARS2 | Zornitza Stark Phenotypes for gene: LARS2 were changed from Perrault syndrome to Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Perrault syndrome 4, MIM# 615300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.221 | LARS2 | Zornitza Stark Classified gene: LARS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.221 | LARS2 | Zornitza Stark Gene: lars2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.220 | LARS2 | Zornitza Stark reviewed gene: LARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.199 | LARS2 | David Amor reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome, sensorineural hearing loss, ovarian dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.35 | ALDH3A2 | Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome to Sjogren-Larsson syndrome MIM#270200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.33 | ALDH3A2 | Zornitza Stark reviewed gene: ALDH3A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome MIM#270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | LARS |
Zornitza Stark gene: LARS was added gene: LARS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARS were set to Infantile liver failure syndrome |
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| BabyScreen+ newborn screening v0.0 | CHST3 |
Zornitza Stark gene: CHST3 was added gene: CHST3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST3 were set to Larsen syndrome |
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| BabyScreen+ newborn screening v0.0 | LARS2 |
Zornitza Stark gene: LARS2 was added gene: LARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARS2 were set to Perrault syndrome |
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| BabyScreen+ newborn screening v0.0 | ALDH3A2 |
Zornitza Stark gene: ALDH3A2 was added gene: ALDH3A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome |
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