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| Additional findings_Paediatric v0.134 | STAC3 | Zornitza Stark Marked gene: STAC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.134 | STAC3 | Zornitza Stark Gene: stac3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.134 | STAC3 | Zornitza Stark Phenotypes for gene: STAC3 were changed from Myopathy, Native American to Myopathy, congenital, Baily-Bloch, MIM# 255995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.133 | STAC3 | Zornitza Stark Publications for gene: STAC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.132 | STAC3 | Zornitza Stark Classified gene: STAC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.132 | STAC3 | Zornitza Stark Gene: stac3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.131 | STAC3 | Zornitza Stark reviewed gene: STAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23736855, 28411587, 28777491, 30168660; Phenotypes: Myopathy, congenital, Baily-Bloch, MIM# 255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | STAC3 |
Zornitza Stark gene: STAC3 was added gene: STAC3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAC3 were set to Myopathy, Native American |
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| Additional findings_Paediatric v0.2 | SLC35C1 |
Zornitza Stark gene: SLC35C1 was added gene: SLC35C1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35C1 were set to Congenital disorder of glycosylation 2c |
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| Additional findings_Paediatric v0.2 | SLC35A2 |
Zornitza Stark gene: SLC35A2 was added gene: SLC35A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC35A2 were set to Early-onset epileptic encephalopathy |
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| Additional findings_Paediatric v0.2 | SLC35A1 |
Zornitza Stark gene: SLC35A1 was added gene: SLC35A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35A1 were set to CDG syndrome type IIf |
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| Additional findings_Paediatric v0.2 | SLC33A1 |
Zornitza Stark Mode of inheritance for gene SLC33A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Spastic paraplegia, autosomal dominant for gene: SLC33A1 |
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| Additional findings_Paediatric v0.2 | SLC33A1 |
Zornitza Stark gene: SLC33A1 was added gene: SLC33A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss and low serum copper and ceruloplasmin |
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| Additional findings_Paediatric v0.2 | MYBPC3 |
Zornitza Stark Source BabySeq Category C gene was added to MYBPC3. Source Expert Review Red was added to MYBPC3. Added phenotypes Cardiomyopathy, dilated for gene: MYBPC3 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | ERCC3 |
Zornitza Stark gene: ERCC3 was added gene: ERCC3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC3 were set to Xeroderma pigmentosum |
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| Additional findings_Paediatric v0.2 | C3 |
Zornitza Stark gene: C3 was added gene: C3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C3 were set to Haemolytic uraemic syndrome |
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| Additional findings_Paediatric v0.2 | MYBPC3 |
Zornitza Stark gene: MYBPC3 was added gene: MYBPC3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic |
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| Additional findings_Paediatric v0.2 | ZIC3 |
Zornitza Stark gene: ZIC3 was added gene: ZIC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to Heterotaxy |
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| Additional findings_Paediatric v0.2 | TTC37 |
Zornitza Stark gene: TTC37 was added gene: TTC37 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome |
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| Additional findings_Paediatric v0.2 | SLC3A1 |
Zornitza Stark gene: SLC3A1 was added gene: SLC3A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC3A1 were set to Cystinuria |
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| Additional findings_Paediatric v0.2 | SLC39A4 |
Zornitza Stark gene: SLC39A4 was added gene: SLC39A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica |
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| Additional findings_Paediatric v0.2 | SLC37A4 |
Zornitza Stark gene: SLC37A4 was added gene: SLC37A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib |
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| Additional findings_Paediatric v0.2 | SLC35D1 |
Zornitza Stark gene: SLC35D1 was added gene: SLC35D1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia |
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| Additional findings_Paediatric v0.2 | SLC34A3 |
Zornitza Stark gene: SLC34A3 was added gene: SLC34A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria |
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| Additional findings_Paediatric v0.2 | SLC34A2 |
Zornitza Stark gene: SLC34A2 was added gene: SLC34A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis |
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| Additional findings_Paediatric v0.2 | GPC3 | Zornitza Stark Added phenotypes Simpson-Golabi-Behmel syndrome for gene: GPC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | GIPC3 | Zornitza Stark Added phenotypes Hearing loss for gene: GIPC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | G6PC3 | Zornitza Stark Added phenotypes Neutropaenia, congenital for gene: G6PC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CCDC39 | Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: CCDC39 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome |
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| Additional findings_Paediatric v0.0 | GIPC3 |
Zornitza Stark gene: GIPC3 was added gene: GIPC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIPC3 were set to Hearing loss |
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| Additional findings_Paediatric v0.0 | G6PC3 |
Zornitza Stark gene: G6PC3 was added gene: G6PC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC3 were set to Neutropaenia, congenital |
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| Additional findings_Paediatric v0.0 | CCDC39 |
Zornitza Stark gene: CCDC39 was added gene: CCDC39 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia |
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