Activity
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28 actions
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| Additional findings_Paediatric v0.264 | CSF2RA | Zornitza Stark Marked gene: CSF2RA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.264 | CSF2RA | Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.264 | CSF2RA | Zornitza Stark Phenotypes for gene: CSF2RA were changed from Pulmonary alveolar proteinosis to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.263 | CSF2RA | Zornitza Stark Publications for gene: CSF2RA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.262 | CSF2RA | Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.261 | CSF2RA | Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20622029, 25425184, 18955570; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ZNF252P |
Zornitza Stark gene: ZNF252P was added gene: ZNF252P was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ZNF252P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZNF252P were set to Hypothyroidism |
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| Additional findings_Paediatric v0.2 | KIF22 |
Zornitza Stark gene: KIF22 was added gene: KIF22 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 |
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| Additional findings_Paediatric v0.2 | GTF2H5 |
Zornitza Stark gene: GTF2H5 was added gene: GTF2H5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy |
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| Additional findings_Paediatric v0.2 | FOXF2 |
Zornitza Stark gene: FOXF2 was added gene: FOXF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: FOXF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXF2 were set to Disorders of sex development with cleft palate |
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| Additional findings_Paediatric v0.2 | EIF2B1 |
Zornitza Stark gene: EIF2B1 was added gene: EIF2B1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter |
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| Additional findings_Paediatric v0.2 | DNAAF2 |
Zornitza Stark gene: DNAAF2 was added gene: DNAAF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF2 were set to Primary ciliary dyskinesia |
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| Additional findings_Paediatric v0.2 | CSF2RB |
Zornitza Stark gene: CSF2RB was added gene: CSF2RB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSF2RB were set to Pulmonary alveolar proteinosis |
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| Additional findings_Paediatric v0.2 | TINF2 |
Zornitza Stark gene: TINF2 was added gene: TINF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TINF2 were set to Dyskeratosis congenita |
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| Additional findings_Paediatric v0.2 | SDHAF2 |
Zornitza Stark gene: SDHAF2 was added gene: SDHAF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHAF2 were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| Additional findings_Paediatric v0.2 | NF2 |
Zornitza Stark gene: NF2 was added gene: NF2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF2 were set to Neurofibromatosis 2 |
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| Additional findings_Paediatric v0.2 | NCF2 |
Zornitza Stark gene: NCF2 was added gene: NCF2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NCF2 were set to Chronic granulomatous disease |
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| Additional findings_Paediatric v0.2 | KIF21A |
Zornitza Stark gene: KIF21A was added gene: KIF21A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital |
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| Additional findings_Paediatric v0.2 | F2 | Zornitza Stark Added phenotypes Prothrombin deficiency for gene: F2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | EIF2AK3 | Zornitza Stark Added phenotypes Wolcott-Rallison syndrome for gene: EIF2AK3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CYP4F22 | Zornitza Stark Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: CYP4F22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CSF2RA | Zornitza Stark Added phenotypes Pulmonary alveolar proteinosis for gene: CSF2RA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ARFGEF2 | Zornitza Stark Added phenotypes Periventricular heterotopia with microcephaly for gene: ARFGEF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | F2 |
Zornitza Stark gene: F2 was added gene: F2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F2 were set to Prothrombin deficiency |
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| Additional findings_Paediatric v0.0 | EIF2AK3 |
Zornitza Stark gene: EIF2AK3 was added gene: EIF2AK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome |
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| Additional findings_Paediatric v0.0 | CYP4F22 |
Zornitza Stark gene: CYP4F22 was added gene: CYP4F22 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive |
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| Additional findings_Paediatric v0.0 | CSF2RA |
Zornitza Stark gene: CSF2RA was added gene: CSF2RA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CSF2RA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CSF2RA were set to Pulmonary alveolar proteinosis |
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| Additional findings_Paediatric v0.0 | ARFGEF2 |
Zornitza Stark gene: ARFGEF2 was added gene: ARFGEF2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly |
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