Activity
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| Familial tumours of the nervous system v2.8 | CDKN2A | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #155601, #155755 & #606719) and the OMIM records were last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.8 | CDKN2A | Achchuthan Shanmugasundram Phenotypes for gene: CDKN2A were changed from {Melanoma and neural system tumor syndrome}, OMIM:155755; Astrocytoma; Glioblastoma; Schwannoma; Neurofibroma; Meningioma; Malignant peripheral nerve sheath tumours to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719; melanoma, cutaneous malignant, susceptibility to, 2, MONDO:0007964; melanoma and neural system tumor syndrome, MONDO:0007967; melanoma-pancreatic cancer syndrome, MONDO:0011713 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.7 | CDKN2A | Arina Puzriakova Phenotypes for gene: CDKN2A were changed from {Melanoma and neural system tumor syndrome}, OMIM:155755; MELANOMA; PANCREATIC CANCER; ASTROCYTOMA; GLIOBLASTOMA; SCHWANNOMA; NEUROFIBROMA; MENINGIOMA; MALIGNANT PERIPHERAL NERVE SHEATH TUMOURS to {Melanoma and neural system tumor syndrome}, OMIM:155755; Astrocytoma; Glioblastoma; Schwannoma; Neurofibroma; Meningioma; Malignant peripheral nerve sheath tumours | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.6 | CDKN2A | Arina Puzriakova Publications for gene: CDKN2A were set to PMID 24884915; 8317504; 9622062; 10797439; 17440112; 26794401; 29263814; 28699883; 28754699; 35422439; 38936911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.5 | CDKN2A |
Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: CDKN2A. Tag Q2_25_ NHS_review was removed from gene: CDKN2A. |
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| Familial tumours of the nervous system v2.5 | CDKN2A | Arina Puzriakova edited their review of gene: CDKN2A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.4 | CDKN2A |
Arina Puzriakova Source NHS GMS was added to CDKN2A. Source Expert Review Green was added to CDKN2A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Familial tumours of the nervous system v2.3 | CDKN2A | Arina Puzriakova Classified gene: CDKN2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.3 | CDKN2A |
Arina Puzriakova Added comment: Comment on list classification: This gene was reviewed by the cancer expert group and the evidence was determined as sufficient for inclusion on this panel. Therefore, it should be updated to Green at the next GMS panel update. Melanoma and neural system tumor syndrome (OMIM:155755) associated with heterozygous variants in the CDKN2A gene is characterised by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma. |
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| Familial tumours of the nervous system v2.3 | CDKN2A | Arina Puzriakova Gene: cdkn2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.2 | CDKN2A |
Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: CDKN2A. Tag Q2_25_ NHS_review tag was added to gene: CDKN2A. |
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| Familial tumours of the nervous system v2.2 | CDKN2A | Arina Puzriakova Phenotypes for gene: CDKN2A were changed from MELANOMA; PANCREATIC CANCER; ASTROCYTOMA; GLIOBLASTOMA; SCHWANNOMA; NEUROFIBROMA; MENINGIOMA; MALIGNANT PERIPHERAL NERVE SHEATH TUMOURS to {Melanoma and neural system tumor syndrome}, OMIM:155755; MELANOMA; PANCREATIC CANCER; ASTROCYTOMA; GLIOBLASTOMA; SCHWANNOMA; NEUROFIBROMA; MENINGIOMA; MALIGNANT PERIPHERAL NERVE SHEATH TUMOURS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.1 | CDKN2A |
Terri McVeigh gene: CDKN2A was added gene: CDKN2A was added to Familial tumours of the nervous system. Sources: Expert Review,Literature Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDKN2A were set to PMID 24884915; 8317504; 9622062; 10797439; 17440112; 26794401; 29263814; 28699883; 28754699; 35422439; 38936911 Phenotypes for gene: CDKN2A were set to MELANOMA; PANCREATIC CANCER; ASTROCYTOMA; GLIOBLASTOMA; SCHWANNOMA; NEUROFIBROMA; MENINGIOMA; MALIGNANT PERIPHERAL NERVE SHEATH TUMOURS Penetrance for gene: CDKN2A were set to Incomplete Review for gene: CDKN2A was set to GREEN Added comment: Phenotype including neural tumours discussed at Joint Dutch/UKCGG Cancer Case Meeting 2025 Sources: Expert Review, Literature |
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