Retinitis pigmentosa_Autosomal Dominant
Gene: ROM1
Variants in this gene are proposed to be modifiers of retinal disease caused by other genes; however families where only ROM variants are identified also reported. Supportive functional data including animal models.
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.Created: 6 Oct 2020, 9:51 p.m. | Last Modified: 6 Oct 2020, 9:51 p.m.
Panel Version: 0.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinitis pigmentosa 7, digenic form, MIM# 608133
Publications
Gene: rom1 has been classified as Green List (High Evidence).
Publications for gene: ROM1 were set to
Mode of inheritance for gene: ROM1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: ROM1 was added gene: ROM1 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ROM1 were set to Retinitis pigmentosa 7, digenic, 608133