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| Paraganglioma_phaeochromocytoma v1.2 | ISCA-37431-Loss |
Sarah Milton Region: ISCA-37431-Loss was added Region: ISCA-37431-Loss was added to Paraganglioma_phaeochromocytoma. Sources: Expert Review Green,Expert list Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829 Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome |
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| Paraganglioma_phaeochromocytoma v0.30 | NF1 | Zornitza Stark Marked gene: NF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.30 | NF1 | Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.22 | NF1 | Chirag Patel Classified gene: NF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.22 | NF1 | Chirag Patel Gene: nf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.19 | NF1 |
Chirag Patel gene: NF1 was added gene: NF1 was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200 Review for gene: NF1 was set to GREEN Added comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition. Single gene testing may be more appropriate if clinical features of NF1. Sources: Expert list, Expert Review |
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