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Mendeliome

Gene: ARR3

Green List (high evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 multi-generational families with female-limited early-onset high myopia. Only female carriers are affected and hemizygous males are unaffected. Authors hypothesise the mode of inheritance might be explained by metabolic interference due to X-inactivation.
Sources: Literature
Created: 4 Feb 2022, 1:56 a.m.

Mode of inheritance
Other

Phenotypes
Myopia 26, X-linked, female-limited MIM#301010

Publications

Details

Mode of Inheritance
Other
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myopia 26, X-linked, female-limited MIM#301010
OMIM
301770
Clinvar variants
Variants in ARR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arr3 has been classified as Green List (High Evidence).

4 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arr3 has been classified as Green List (High Evidence).

4 Feb 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ARR3 was added gene: ARR3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ARR3 was set to Other Publications for gene: ARR3 were set to 27829781; 35001458 Phenotypes for gene: ARR3 were set to Myopia 26, X-linked, female-limited MIM#301010 Review for gene: ARR3 was set to GREEN