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| Familial Tumours Syndromes of the central & peripheral Nervous system v1.14 | SUFU | Arina Puzriakova Phenotypes for gene: SUFU were changed from {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174 to Basal cell nevus syndrome, OMIM:109400; {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Tumours Syndromes of the central & peripheral Nervous system v1.13 | SUFU | Arina Puzriakova Phenotypes for gene: SUFU were changed from Brain, CNS, and PNS Cancer to {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Tumours Syndromes of the central & peripheral Nervous system v1.12 | ISCA-37431-Loss | Arina Puzriakova commented on Region: ISCA-37431-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Tumours Syndromes of the central & peripheral Nervous system v1.12 | ISCA-37431-Loss |
Arina Puzriakova GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008. Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60. |
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| Familial Tumours Syndromes of the central & peripheral Nervous system v1.11 | SMARCE1 | Arina Puzriakova Phenotypes for gene: SMARCE1 were changed from familial spinal and cranial meningiomas to {Meningioma, familial, susceptibility to}, OMIM:607174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Tumours Syndromes of the central & peripheral Nervous system v1.10 | VHL | Ivone Leong Phenotypes for gene: VHL were changed from Von Hippel-Lindau Syndrome; von Hippel-Lindau syndrome, 193300; Renal cell carcinoma, somatic, 144700; Pheochromocytoma, 171300; Hemangioblastoma, cerebellar, somatic; Erythrocytosis, familial, 2, 263400 to von Hippel-Lindau syndrome, OMIM:193300; Pheochromocytoma, OMIM:171300; Hemangioblastoma, cerebellar, somatic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Tumours Syndromes of the central & peripheral Nervous system v1.8 | ISCA-37431-Loss |
Louise Daugherty Region: ISCA-37431-Loss was added Region: ISCA-37431-Loss was added to Familial Tumours Syndromes of the central & peripheral Nervous system. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb |
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| Familial Tumours Syndromes of the central & peripheral Nervous system | PTEN | Louise Daugherty classified PTEN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Tumours Syndromes of the central & peripheral Nervous system | PTEN | Louise Daugherty Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||