Structural eye disease
Gene: ARR3EnsemblGeneIds (GRCh38): ENSG00000120500
EnsemblGeneIds (GRCh37): ENSG00000120500
OMIM: 301770, Gene2Phenotype
ARR3 is in 1 panel
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: X‐linked female limitedCreated: 16 Apr 2025, 5:44 p.m. | Last Modified: 16 Apr 2025, 5:44 p.m.
Panel Version: 4.8
Six ARR3 variants have been seen in seven unrelated families with Myopia 26, X-linked, female-limited (OMIM:301010). The inheritance of the causative ARR3 variants is X‐linked female limited, in that only the female carriers of the variant display the phenotype - OMIM:301010 (PMID: 35001458;33482870;27829781).Created: 16 Apr 2025, 5:44 p.m. | Last Modified: 23 Apr 2025, 7:59 a.m.
Panel Version: 4.8
Mode of inheritance
Other
Dmitrijs Rots (Children's Clinical University Hospital)
3 multigenerational families with X-linked dominant, female limited high myopia reported in 35001458. Each family has different trucating variant in ARR3
Sources: LiteratureCreated: 9 Oct 2022, 4:36 p.m.
Mode of inheritance
Other
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Myopia 26, X-linked, female-limited, OMIM:301010
- myopia 26, X-linked, female-limited, MONDO:0049221
- Tags
- OMIM
- 301770
- Clinvar variants
- Variants in ARR3
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_25_ promote_green tag was added to gene: ARR3.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: ARR3 was changed from Other to Other
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ARR3 were set to 35001458
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ARR3 were changed from to Myopia 26, X-linked, female-limited, OMIM:301010; myopia 26, X-linked, female-limited, MONDO:0049221
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: arr3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance
Dmitrijs Rots (Children's Clinical University Hospital)gene: ARR3 was added gene: ARR3 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: ARR3 was set to Other Publications for gene: ARR3 were set to 35001458 Penetrance for gene: ARR3 were set to unknown Review for gene: ARR3 was set to AMBER