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Structural eye disease
Gene: ARR3

ARR3 (arrestin 3)
EnsemblGeneIds (GRCh38): ENSG00000120500
EnsemblGeneIds (GRCh37): ENSG00000120500
OMIM: 301770, Gene2Phenotype
ARR3 is in 1 panel

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: Note: this gene is linked to a condition that presents in females only, although hemizygous variants in males may also be prioritised with this mode of inheritance.
Created: 12 Mar 2026, 3:05 p.m. | Last Modified: 12 Mar 2026, 3:05 p.m.

Panel Version: 4.40

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 3:02 p.m. | Last Modified: 12 Mar 2026, 3:02 p.m.

Panel Version: 4.39

Created: 12 Mar 2026, 3:02 p.m.
Last Modified: 12 Mar 2026, 3:02 p.m.
Panel version: 4.39

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: X‐linked female limited
Created: 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

Created: 16 Apr 2025, 5:44 p.m.
Last Modified: 23 Apr 2025, 7:59 a.m.
Panel version: 4.7

Dmitrijs Rots (Children's Clinical University Hospital)

I don't know

3 multigenerational families with X-linked dominant, female limited high myopia reported in 35001458. Each family has different trucating variant in ARR3
Sources: Literature
Created: 9 Oct 2022, 4:36 p.m.

Mode of inheritance
Other

Publications

35001458

Created: 9 Oct 2022, 4:36 p.m.

Panel version: 1.149

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
NHS GMS

Phenotypes

Myopia 26, X-linked, female-limited, OMIM:301010
myopia 26, X-linked, female-limited, MONDO:0049221

Tags

x-linked-over-dominance

OMIM

301770

Clinvar variants

Variants in ARR3

Penetrance

unknown

Publications

Panels with this gene

Structural eye disease

History Filter Activity

12 Mar 2026, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag x-linked-over-dominance tag was added to gene: ARR3.

12 Mar 2026, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: ARR3.

12 Mar 2026, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: ARR3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

12 Mar 2026, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ARR3. Source Expert Review Green was added to ARR3. Mode of inheritance for gene ARR3 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Apr 2025, Gel status: 2