Congenital nystagmus

Gene: ROM1

Red List (low evidence)

ROM1 (retinal outer segment membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000149489
EnsemblGeneIds (GRCh37): ENSG00000149489
OMIM: 180721, Gene2Phenotype
ROM1 is in 3 panels

3 reviews

Daniel Flanagan (Victorian Clinical Genetics Services)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Eleanor Williams (Genomics England)

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

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 7, digenic form, MIM# 608133
OMIM
180721
Clinvar variants
Variants in ROM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rom1 has been classified as Red List (Low Evidence).

27 Oct 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ROM1 were changed from to Retinitis pigmentosa 7, digenic form, MIM# 608133

27 Oct 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ROM1 were set to

27 Oct 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ROM1 was changed from to Other

27 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rom1 has been classified as Red List (Low Evidence).

6 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ROM1 was added gene: ROM1 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ROM1 was set to