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| Additional findings_Paediatric v0.261 | EFHC1 | Zornitza Stark Marked gene: EFHC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.261 | EFHC1 | Zornitza Stark Gene: efhc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.261 | EFHC1 | Zornitza Stark Phenotypes for gene: EFHC1 were changed from Myoclonic epilepsy to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.260 | EFHC1 | Zornitza Stark Publications for gene: EFHC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.259 | EFHC1 | Zornitza Stark Classified gene: EFHC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.259 | EFHC1 | Zornitza Stark Gene: efhc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.258 | EFHC1 | Zornitza Stark reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: 31056551, 28370826, 29750216, 33969125, 33181902; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 1}, 607631, {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.117 | FH | Zornitza Stark Marked gene: FH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.117 | FH | Zornitza Stark Gene: fh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.117 | FH | Zornitza Stark Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer; Fumarase deficiency to Fumurase deficiency MIM# 606812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.116 | FH | Zornitza Stark Mode of inheritance for gene: FH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.115 | FH | Zornitza Stark Classified gene: FH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.115 | FH | Zornitza Stark Gene: fh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.106 | FH | Lilian Downie reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fumurase deficiency MIM# 606812, Leiomyomatosis and renal cell cancer MIM# 150800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FHL2 |
Zornitza Stark gene: FHL2 was added gene: FHL2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FHL2 were set to Cardiomyopathy, hypertrophic |
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| Additional findings_Paediatric v0.2 | FHL1 |
Zornitza Stark Source BabySeq Category C gene was added to FHL1. Source Expert Review Red was added to FHL1. Added phenotypes Myofibrillar myopathy for gene: FHL1 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | FH |
Zornitza Stark Source BabySeq Category C gene was added to FH. Source Expert Review Red was added to FH. Mode of inheritance for gene FH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Leiomyomatosis and renal cell cancer for gene: FH Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | CFHR5 |
Zornitza Stark gene: CFHR5 was added gene: CFHR5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFHR5 were set to Haemolytic uraemic syndrome |
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| Additional findings_Paediatric v0.2 | CFHR4 |
Zornitza Stark gene: CFHR4 was added gene: CFHR4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CFHR4 was set to Unknown Phenotypes for gene: CFHR4 were set to Hemolytic-uremic syndrome, atypical, susceptibility to |
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| Additional findings_Paediatric v0.2 | CFHR3 |
Zornitza Stark gene: CFHR3 was added gene: CFHR3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CFHR3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFHR3 were set to Haemolytic uraemic syndrome |
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| Additional findings_Paediatric v0.2 | CFHR1 |
Zornitza Stark gene: CFHR1 was added gene: CFHR1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CFHR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFHR1 were set to Haemolytic uraemic syndrome |
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| Additional findings_Paediatric v0.2 | CFH |
Zornitza Stark gene: CFH was added gene: CFH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFH were set to Haemolytic uraemic syndrome |
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| Additional findings_Paediatric v0.2 | FHL1 | Zornitza Stark Added phenotypes Emery-Dreifuss muscular dystrophy for gene: FHL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FH | Zornitza Stark Added phenotypes Fumarase deficiency for gene: FH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | EFHC1 | Zornitza Stark Added phenotypes Myoclonic epilepsy for gene: EFHC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | FHL1 |
Zornitza Stark gene: FHL1 was added gene: FHL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy |
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| Additional findings_Paediatric v0.0 | FH |
Zornitza Stark gene: FH was added gene: FH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to Fumarase deficiency |
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| Additional findings_Paediatric v0.0 | EFHC1 |
Zornitza Stark gene: EFHC1 was added gene: EFHC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: EFHC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EFHC1 were set to Myoclonic epilepsy |
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