Activity
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15 actions
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| Retinal disorders v7.8 | MAN2B1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAN2B1. Tag Q3_24_NHS_review was removed from gene: MAN2B1. |
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| Retinal disorders v7.8 | MAN2B1 | Achchuthan Shanmugasundram reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.7 | MAN2B1 |
Achchuthan Shanmugasundram Source NHS GMS was added to MAN2B1. Source Expert Review Green was added to MAN2B1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v7.1 | MAN2B1 | Achchuthan Shanmugasundram Tag Q3_24_MOI was removed from gene: MAN2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.12 | MAN2B1 | Sarah Leigh Tag Q3_24_MOI tag was added to gene: MAN2B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.12 | MAN2B1 |
Sarah Leigh commented on gene: MAN2B1: MAN2B1 variants have been associated with Mannosidosis, alpha-, types I and II, (OMIM:248500). Matlach et al (PMID: 29859105) present a detailed study of the ocular manifestations in OMIM:248500. Using posterior segment examination, fundus photography, and Spectral-Domain optical coherence tomography (SD-OCT) imaging, in a cohort of 32 patients, the authors were able to show the following: Tapeto-retinal degeneration with bone spicule formations in the peripheral retina or macular changes in three patients (9.4%) on funduscopy (two had optic nerve atrophy). Thinning of the outer retinal layer was seen in six patients (18.8%) using OCT. Optic nerve atrophy was seen in six patients (18.8%)(four with partial atrophy). A further two patients (6.3%) had partial optic nerve atrophy with no retinal abnormalities on funduscopy. Cataract was seen in two patients (6.3%), corneal haze was seen in two patients (6.3%). Six patients (18.8%) had manifest strabismus, four (12.5%) nystagmus, and in five patients (15.6%) impaired smooth pursuit eye movements were seen. This study emphasized the importance of detailed examinations, to be able to diagnose early signs of disease. |
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| Retinal disorders v6.12 | MAN2B1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.12 | MAN2B1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MAN2B1. Tag Q3_24_NHS_review tag was added to gene: MAN2B1. |
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| Retinal disorders v6.12 | MAN2B1 | Sarah Leigh reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.12 | MAN2B1 | Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II, OMIM:248500 to Mannosidosis, alpha-, types I and II, OMIM:248500; alpha-mannosidosis, MONDO:0009561 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.11 | MAN2B1 | Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Retinal dystrophy to Mannosidosis, alpha-, types I and II, OMIM:248500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.10 | MAN2B1 | Sarah Leigh Publications for gene: MAN2B1 were set to PMID:29859105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.9 | MAN2B1 | Sarah Leigh Classified gene: MAN2B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.9 | MAN2B1 | Sarah Leigh Gene: man2b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.5 | MAN2B1 |
Siying Lin gene: MAN2B1 was added gene: MAN2B1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to PMID:29859105 Phenotypes for gene: MAN2B1 were set to Retinal dystrophy Mode of pathogenicity for gene: MAN2B1 was set to Other Review for gene: MAN2B1 was set to GREEN Added comment: Retinal dystrophy can be a feature of the systemic alpha-mannosidosis phenotype, and can be the presenting feature in apparent non-syndromic retinal dystrophy (one individual in the Moorfields cohort) Sources: Literature |
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