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Mendeliome v2.194 ARR3 Zornitza Stark Publications for gene: ARR3 were set to 27829781; 35001458
Mendeliome v2.193 ARR3 Zornitza Stark 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)
Mendeliome v2.192 ARR3 Zornitza Stark reviewed gene: ARR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35001458, 37795829, 36964802, 37268727, 32215939, 36180177, 38789272, 42326764, 38517428, 38958970, 41631463, 39420435, 39495751, 34966409, 36769483; Phenotypes: Myopia 26, X-linked, female-limited MIM#301010; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v2.0 ARR3 Gene migrated from ENSG00000120500 to ENSG00000120500 (gene set migration)
Mendeliome v0.10908 ARR3 Bryony Thompson Marked gene: ARR3 as ready
Mendeliome v0.10908 ARR3 Bryony Thompson Gene: arr3 has been classified as Green List (High Evidence).
Mendeliome v0.10908 ARR3 Bryony Thompson Classified gene: ARR3 as Green List (high evidence)
Mendeliome v0.10908 ARR3 Bryony Thompson Gene: arr3 has been classified as Green List (High Evidence).
Mendeliome v0.10907 ARR3 Bryony Thompson 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
Added comment: 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