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| Retinal disorders v3.26 | POMT1 |
Achchuthan Shanmugasundram Tag Q3_21_NHS_review was removed from gene: POMT1. Tag Q3_22_rating was removed from gene: POMT1. |
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| Retinal disorders v3.26 | POMT1 | Achchuthan Shanmugasundram reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v3.25 | POMT1 |
Achchuthan Shanmugasundram Source NHS GMS was added to POMT1. Source Expert Review Green was added to POMT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.280 | POMT1 |
Ivone Leong Tag Q3_21_NHS_review tag was added to gene: POMT1. Tag Q3_22_rating tag was added to gene: POMT1. |
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| Retinal disorders v2.280 | POMT1 | Ivone Leong Classified gene: POMT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.280 | POMT1 | Ivone Leong Added comment: Comment on list classification: New gene added by Robert Henderson (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on expert review this gene should be promoted to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.280 | POMT1 | Ivone Leong Gene: pomt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.279 | POMT1 | Ivone Leong Added comment: Comment on mode of inheritance: MOI for this gene has been changed from Monoallelic to Biallelic as this is the correct MOI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.279 | POMT1 | Ivone Leong Mode of inheritance for gene: POMT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.278 | POMT1 | Ivone Leong Phenotypes for gene: POMT1 were changed from retinal detachment to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, MONDO:0009364; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1, MONDO:0013159 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.277 | POMT1 | Ivone Leong Publications for gene: POMT1 were set to PMID:16575835; 31311558; 16887026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.274 | POMT1 |
Robert Henderson gene: POMT1 was added gene: POMT1 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: POMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POMT1 were set to PMID:16575835; 31311558; 16887026 Phenotypes for gene: POMT1 were set to retinal detachment Penetrance for gene: POMT1 were set to unknown Review for gene: POMT1 was set to GREEN Added comment: This is currently included on numerous panels but not on the retina/posterior segment panel. It would merit inclusion on an inherited vitreoretinopathy slice. Sources: Expert list |
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