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| Genomic newborn screening: BabyScreen+ v2.7 | TMEM127 | Zornitza Stark Marked gene: TMEM127 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v2.7 | TMEM127 | Zornitza Stark Gene: tmem127 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v2.7 | TMEM127 | Zornitza Stark Phenotypes for gene: TMEM127 were changed from to Pheochromocytoma/paraganglioma syndrome 8, MIM# 621687 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v2.6 | TMEM127 | Zornitza Stark Mode of inheritance for gene: TMEM127 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v2.5 | TMEM127 | Zornitza Stark Classified gene: TMEM127 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v2.5 | TMEM127 | Zornitza Stark Gene: tmem127 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v2.4 | TMEM127 | Zornitza Stark Tag TRAIL study tag was added to gene: TMEM127. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v2.4 | TMEM127 | Zornitza Stark reviewed gene: TMEM127: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pheochromocytoma/paraganglioma syndrome 8, MIM# 621687; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v2.1 | TMEM127 |
TRAIL SCHN changed review comment from: Please tag as "TRAIL Study" Rationale: Clinician supported inclusion, childhood cancer predisposition causing (Pheochromocytomas and paragangliomas) Sources: Expert Review; to: Please tag as "TRAIL Study" Clinician supported inclusion, childhood cancer predisposition causing pheochromocytomas and paragangliomas, monitoring for early intervention Sources: Expert Review |
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| Genomic newborn screening: BabyScreen+ v2.1 | TMEM127 | TRAIL SCHN reviewed gene: TMEM127: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v2.1 | TMEM127 | TRAIL SCHN Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v2.1 | TMEM127 |
TRAIL SCHN gene: TMEM127 was added gene: TMEM127 was added to Genomic newborn screening: BabyScreen+. Sources: Expert Review Mode of inheritance for gene: TMEM127 was set to BIALLELIC, autosomal or pseudoautosomal Added comment: Please tag as "TRAIL Study" Rationale: Clinician supported inclusion, childhood cancer predisposition causing (Pheochromocytomas and paragangliomas) Sources: Expert Review |
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