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Retinal disorders v2.243 ROM1 Ivone Leong Tag for-review was removed from gene: ROM1.
Retinal disorders v2.243 ROM1 Ivone Leong commented on gene: ROM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Retinal disorders v2.243 ROM1 Ivone Leong Source Expert Review Green was added to ROM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Retinal disorders v2.130 ROM1 Ivone Leong Classified gene: ROM1 as Amber List (moderate evidence)
Retinal disorders v2.130 ROM1 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is sufficient evidence to support a gene-disease association and it is recommended that this gene should be given Green status.
Retinal disorders v2.130 ROM1 Ivone Leong Gene: rom1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v2.129 ROM1 Ivone Leong Tag for-review tag was added to gene: ROM1.
Retinal disorders v2.129 ROM1 Ivone Leong Mode of inheritance for gene: ROM1 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Retinal disorders v2.115 ROM1 Ivone Leong Phenotypes for gene: ROM1 were changed from Retinitis pigmentosa 7, digenic; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; Retinitis pigmentosa 7, digenic, 608133 to Retinitis pigmentosa 7, digenic, OMIM:608133
Retinal disorders v2.114 ROM1 Ivone Leong Publications for gene: ROM1 were set to 8595413; 32716032
Retinal disorders v2.17 ROM1 Zornitza Stark reviewed gene: ROM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32036094, 8202715, 30630813, 24618324, 20300562, 32716032; Phenotypes: Retinitis pigmentosa 7, digenic form, MIM# 608133; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Retinal disorders v2.17 ROM1 Eleanor Williams Publications for gene: ROM1 were set to
Retinal disorders v2.16 ROM1 Eleanor Williams changed review comment from: PMID: 32716032 - Strayve et al 2020 - created mouse models to look at the effects of eliminating one allele of Rom1 (Rom1+/−) in three different Prph2 models which mimic human disease: C213Y Prph2 (Prph2C/+), K153Del Prph2 (Prph2K/+) and R172W (Prph2R172W).

Reducing Rom1 when there was no Prph2 mutations (Rom1+/−) had no effect on retinal structure or function. But
reducing Rom1 in the presence of Prph2 mutations were highly variable ranging from improved rod and cone function to worsened rod and cone function and exacerbated retinal degeneration.; to: PMID: 32716032 - Strayve et al 2020 - created mouse models to look at the effects of eliminating one allele of Rom1 (Rom1+/−) in three different Prph2 models which mimic human disease: C213Y Prph2 (Prph2C/+), K153Del Prph2 (Prph2K/+) and R172W (Prph2R172W).

Reducing Rom1 when there was no Prph2 mutations (Rom1+/−) had no effect on retinal structure or function. But reducing Rom1 in the presence of Prph2 mutations were highly variable ranging from improved rod and cone function to worsened rod and cone function and exacerbated retinal degeneration.
Retinal disorders v2.16 ROM1 Eleanor Williams reviewed gene: ROM1: Rating: ; Mode of pathogenicity: None; Publications: 32716032; Phenotypes: retinal degeneration; Mode of inheritance: None
Retinal disorders v1.159 ROM1 Gavin Arno reviewed gene: ROM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PROM1 Gavin Arno reviewed gene: PROM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 ROM1 Ivone Leong Source NHS GMS was added to ROM1.
Retinal disorders v1.137 PROM1 Ivone Leong Source NHS GMS was added to PROM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders PROM1 BRIDGE consortium reviewed PROM1