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| Structural eye disease v1.113 | NF2 | Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.113 | NF2 | Ivone Leong Tag for-review was removed from gene: NF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.113 | NF2 | Ivone Leong commented on gene: NF2: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.27 | NF2 |
Eleanor Williams Tag for review was removed from gene: NF2. Tag for-review tag was added to gene: NF2. |
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| Structural eye disease v1.27 | NF2 | Eleanor Williams Classified gene: NF2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.27 | NF2 | Eleanor Williams Added comment: Comment on list classification: Leaving this gene for red now, but flagging for review by the GMS as ocular manifestations other than cataracts are seen in some patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.27 | NF2 | Eleanor Williams Gene: nf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.26 | NF2 | Eleanor Williams Phenotypes for gene: NF2 were changed from Neurofibromatosis, Type II, 101000 to Neurofibromatosis, type 2 OMIM:101000; neurofibromatosis type 2 MONDO:0007039 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.25 | NF2 | Eleanor Williams Publications for gene: NF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.24 | NF2 | Eleanor Williams edited their review of gene: NF2: Changed rating: AMBER; Changed publications: 33075808, 31089872, 29923868, 9246269, 12210058; Changed phenotypes: Neurofibromatosis, type 2 OMIM:101000, neurofibromatosis type 2 MONDO:0007039; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.24 | NF2 | Eleanor Williams Tag for review tag was added to gene: NF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.24 | NF2 |
Eleanor Williams changed review comment from: PMID: 33075808 - Sun et al 2020 - mouse model of Nf2 inactivation in embryonic eyes shows increased retinal pigmented epithelium proliferation which they propose cause defects resulting in persistent coloboma.; to: PMID: 33075808 - Sun et al 2020 - mouse model of Nf2 inactivation in embryonic eyes shows increased retinal pigmented epithelium proliferation which they propose cause defects resulting in persistent coloboma. Additional papers supporting association of variants in NF2 and eye abnormalities PMID: 31089872 - Waisberg et al 2019 - report on the eye examination of 8 unrelated NF2 patients from Brazil. 6 had germline variants (nonsense, frameshift, or splice site) in NF2. Ophthalmological features were present in all patients and varied from subtle retinal changes to a severe ocular phenotype preset at birth. Of those 6 with NF2 variants: cataracts 4/6, Hamartoma 4/6, Flame-shaped ERM 5/6, Strabismus 3/6, Retinal Tuft 2/6 and Choroidal nodules 3/6. PMID: 29923868 - Painter et al 2019 - reviewed longitudinal ophthalmological data of 83 patients with NF2 who had a mutation present on blood testing, or identical mutations found in 2 or more tissue samples, or they met the updated Manchester modified criteria for a clinical diagnosis of NF2. Mutations in NF2 associated with severe systemic disease were found to result in greater visual morbidity at an earlier age. PMID: 12210058 - Chan et al 2002 - looked at 40 ocular lesions from four NF2 patients, from three unrelated families. All had germline nonsense mutations in NF2. Cataracts were evident by pseudophakia in seven eyes, iris naevoid hyperplasia at the anterior surface in two eyes of two patients, and retinal lesions in all eyes. PMID: 9246269 - Ragge et al 1997 - report 5 unrelated cases of patients with Neurofibromatosis 2 to illustrate the diverse ocular phenotypes seen in patients. Molecular analysis not given. The authors note that ocular manifestations are often the first sign of disease. |
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| Structural eye disease v1.22 | NF2 | Eleanor Williams changed review comment from: PMID: 33075808 - Sun et al 2020 - mouse model of Nf2 inactivation in embryonic eyes shows increased retinal pigmented epithelium proliferation which they propose result defects leading to persistent coloboma.; to: PMID: 33075808 - Sun et al 2020 - mouse model of Nf2 inactivation in embryonic eyes shows increased retinal pigmented epithelium proliferation which they propose cause defects resulting in persistent coloboma. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.22 | NF2 | Eleanor Williams reviewed gene: NF2: Rating: ; Mode of pathogenicity: None; Publications: 33075808; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | NF2 | Nicola Ragge reviewed gene: NF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurofibromatosis, Type II, 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | NF2 | Ivone Leong edited their review of gene: NF2: Changed phenotypes: Neurofibromatosis, Type II, 101000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | NF2 | Ivone Leong reviewed gene: NF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataract 40, X-linked, 302200, Nance-Horan syndrome, 302350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | NF2 |
Ivone Leong gene: NF2 was added gene: NF2 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF2 were set to Neurofibromatosis, Type II, 101000 |
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