Congenital nystagmus

Gene: ROM1

Red List (low evidence)

Variant in this gene are proposed to have a digenic/modifying affect with PRPH2 gene variants for retinal disease.

PMID: 8202715. Digenic retinitis pigmentosa reported in three families with a PRPH2 gene missense p.(Leu185Pro) and one of two different ROM1 gene PTC variants. Carriers of either variant were unaffected. Nystagmus not reported.

PMID: 32716032. Animal model supporting ROM1 null variants in contributing to phenotypic variability in mutant PRPH2-associated retinal degeneration.

PMID: 30630813. Homozygous truncating ROM1 variant reported in a 63-yr-old individual with late-onset pattern macular dystrophy. Nystagmus not reported.

Created: 26 Oct 2021, 11:53 p.m. | Last Modified: 26 Oct 2021, 11:53 p.m.

Panel Version: 0.96

Mode of inheritance
Other

Phenotypes
Retinitis pigmentosa 7, digenic form

Publications

• PMID: 8202715
• 32716032
• 30630813

Green List (high evidence)

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.

Created: 6 Oct 2020, 9:49 p.m. | Last Modified: 6 Oct 2020, 9:49 p.m.

Panel Version: 0.4811

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 7, digenic form, MIM# 608133

Publications

• 32036094
• 8202715
• 30630813
• 24618324
• 20300562

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, 2:17 p.m. | Last Modified: 6 Oct 2020, 2:17 p.m.

Panel Version: 0.4807

Phenotypes
retinal degeneration

Publications

• 32716032