Activity
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| Familial tumours of the nervous system v2.14 | Arina Puzriakova Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.13 | SUFU | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #155255 & #607174) and the OMIM records were last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.13 | SUFU | Achchuthan Shanmugasundram Phenotypes for gene: SUFU were changed from to {Medulloblastoma}, OMIM:155255; {Meningioma, familial, susceptibility to}, OMIM:607174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.12 | SMARCE1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #607174) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.12 | SMARCE1 | Achchuthan Shanmugasundram Phenotypes for gene: SMARCE1 were changed from to {Meningioma, familial, susceptibility to}, OMIM:607174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.11 | SMARCB1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #162091 & #609322) and the OMIM records were last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.11 | SMARCB1 | Achchuthan Shanmugasundram Phenotypes for gene: SMARCB1 were changed from to {Schwannomatosis-1, susceptibility to}, OMIM:162091; {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; rhabdoid tumor predisposition syndrome 1, MONDO:0012252; SMARCB1-related schwannomatosis, MONDO:0024517 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.10 | NF2 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with MIM #101000 in OMIM and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.10 | NF2 | Achchuthan Shanmugasundram Phenotypes for gene: NF2 were changed from to Schwannomatosis, vestibular, OMIM:101000; NF2-related schwannomatosis, MONDO:0007039 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.9 | LZTR1 | Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #615670) and the OMIM record was last accessed on 29 December 2025.; to: Comment on phenotypes: This gene has been associated with MIM #615670 in OMIM and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.9 | LZTR1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #615670) and the OMIM record was last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.9 | LZTR1 | Achchuthan Shanmugasundram Phenotypes for gene: LZTR1 were changed from to {Schwannomatosis-2, susceptibility to}, OMIM:615670; LZTR1-related schwannomatosis, MONDO:0014299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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| Familial tumours of the nervous system v2.1 | Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2023-12-20 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v2.0 | Achchuthan Shanmugasundram promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v1.3 | LZTFL1 | Eleanor Williams Tag curated_removed tag was added to gene: LZTFL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v1.3 | LZTR1 | Eleanor Williams reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v1.3 | LZTFL1 | Eleanor Williams commented on gene: LZTFL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v1.2 | LZTR1 |
Eleanor Williams gene: LZTR1 was added gene: LZTR1 was added to Familial tumours of the nervous system. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LZTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Familial tumours of the nervous system v1.2 | LZTFL1 |
Eleanor Williams Source Expert Review Removed was added to LZTFL1. Rating Changed from Green List (high evidence) to No List (delete) |
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| Familial tumours of the nervous system v1.1 | Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v1.0 | Eleanor Williams promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.3 | Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.1 | DGCR8 | Eleanor Williams commented on gene: DGCR8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.1 | DGCR8 | Eleanor Williams Tag gene-checked tag was added to gene: DGCR8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.1 | SUFU | Achchuthan Shanmugasundram reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.1 | SMARCE1 | Achchuthan Shanmugasundram reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.1 | SMARCB1 | Achchuthan Shanmugasundram reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.1 | NF2 | Achchuthan Shanmugasundram reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.1 | LZTFL1 | Achchuthan Shanmugasundram reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.1 | DGCR8 | Achchuthan Shanmugasundram reviewed gene: DGCR8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial tumours of the nervous system v0.1 | SUFU |
Achchuthan Shanmugasundram gene: SUFU was added gene: SUFU was added to Familial tumours of the nervous system. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Familial tumours of the nervous system v0.1 | SMARCE1 |
Achchuthan Shanmugasundram gene: SMARCE1 was added gene: SMARCE1 was added to Familial tumours of the nervous system. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Familial tumours of the nervous system v0.1 | SMARCB1 |
Achchuthan Shanmugasundram gene: SMARCB1 was added gene: SMARCB1 was added to Familial tumours of the nervous system. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Familial tumours of the nervous system v0.1 | NF2 |
Achchuthan Shanmugasundram gene: NF2 was added gene: NF2 was added to Familial tumours of the nervous system. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Familial tumours of the nervous system v0.1 | LZTFL1 |
Achchuthan Shanmugasundram gene: LZTFL1 was added gene: LZTFL1 was added to Familial tumours of the nervous system. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LZTFL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Familial tumours of the nervous system v0.1 | DGCR8 |
Achchuthan Shanmugasundram gene: DGCR8 was added gene: DGCR8 was added to Familial tumours of the nervous system. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DGCR8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Familial tumours of the nervous system v0.0 |
Achchuthan Shanmugasundram Added Panel Familial tumours of the nervous system Set list of related panels to R221 Set panel types to: GMS Rare Disease |
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