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| Additional findings_Paediatric v0.221 | Zornitza Stark removed gene:TGFBR3 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.196 | ITGA3 | Zornitza Stark Marked gene: ITGA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.196 | ITGA3 | Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.196 | ITGA3 | Zornitza Stark Classified gene: ITGA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.196 | ITGA3 | Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.195 | ITGA3 | Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | TGIF1 |
Zornitza Stark gene: TGIF1 was added gene: TGIF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGIF1 were set to Holoprosencephaly-4 |
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| Additional findings_Paediatric v0.2 | TGFBR3 |
Zornitza Stark gene: TGFBR3 was added gene: TGFBR3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TGFBR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBR3 were set to Premature ovarian failure |
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| Additional findings_Paediatric v0.2 | TGFB3 |
Zornitza Stark gene: TGFB3 was added gene: TGFB3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia |
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| Additional findings_Paediatric v0.2 | TGFB1 |
Zornitza Stark gene: TGFB1 was added gene: TGFB1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFB1 were set to Camurati-Engelmann disease |
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| Additional findings_Paediatric v0.2 | ITGA7 |
Zornitza Stark gene: ITGA7 was added gene: ITGA7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA7 were set to Congenital muscular dystrophy with integrin deficiency |
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| Additional findings_Paediatric v0.2 | ITGA6 |
Zornitza Stark gene: ITGA6 was added gene: ITGA6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis |
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| Additional findings_Paediatric v0.2 | ITGA3 |
Zornitza Stark gene: ITGA3 was added gene: ITGA3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital |
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| Additional findings_Paediatric v0.2 | TGM5 |
Zornitza Stark gene: TGM5 was added gene: TGM5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM5 were set to Peeling skin syndrome, acral type |
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| Additional findings_Paediatric v0.2 | TGM1 |
Zornitza Stark gene: TGM1 was added gene: TGM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive |
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| Additional findings_Paediatric v0.2 | TGFBR2 |
Zornitza Stark gene: TGFBR2 was added gene: TGFBR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome |
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| Additional findings_Paediatric v0.2 | TGFBR1 |
Zornitza Stark gene: TGFBR1 was added gene: TGFBR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome |
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| Additional findings_Paediatric v0.2 | TG |
Zornitza Stark gene: TG was added gene: TG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3 |
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| Additional findings_Paediatric v0.2 | ITGB4 |
Zornitza Stark gene: ITGB4 was added gene: ITGB4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia |
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| Additional findings_Paediatric v0.2 | GNPTG | Zornitza Stark Added phenotypes Mucolipidosis III gamma for gene: GNPTG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACTG2 | Zornitza Stark Added phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome for gene: ACTG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACTG1 | Zornitza Stark Added phenotypes Baraitser-Winter syndrome for gene: ACTG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACTG1 | Zornitza Stark Added phenotypes Deafness, autosomal dominant for gene: ACTG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | GNPTG |
Zornitza Stark gene: GNPTG was added gene: GNPTG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma |
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| Additional findings_Paediatric v0.0 | ACTG2 |
Zornitza Stark gene: ACTG2 was added gene: ACTG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTG2 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome |
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| Additional findings_Paediatric v0.0 | ACTG1 | Zornitza Stark Added phenotypes Baraitser-Winter syndrome for gene: ACTG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | ACTG1 |
Zornitza Stark gene: ACTG1 was added gene: ACTG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTG1 were set to Deafness, autosomal dominant |
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