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Mendeliome v0.14037 ARL2BP Elena Savva Publications for gene: ARL2BP were set to PMID: 23849777; 27790702; 29718757
Mendeliome v0.14036 ARL2BP Elena Savva Publications for gene: ARL2BP were set to
Mendeliome v0.14035 ARL2BP Elena Savva Marked gene: ARL2BP as ready
Mendeliome v0.14035 ARL2BP Elena Savva Gene: arl2bp has been classified as Green List (High Evidence).
Mendeliome v0.14035 ARL2BP Elena Savva Phenotypes for gene: ARL2BP were changed from to Retinitis pigmentosa with or without situs inversus MIM#615434
Mendeliome v0.14035 ARL2BP Elena Savva Mode of inheritance for gene: ARL2BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14034 ARL2BP Elena Savva reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa with or without situs inversus MIM#615434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5329 ARL2 Zornitza Stark Marked gene: ARL2 as ready
Mendeliome v0.5329 ARL2 Zornitza Stark Gene: arl2 has been classified as Red List (Low Evidence).
Mendeliome v0.5329 ARL2 Zornitza Stark gene: ARL2 was added
gene: ARL2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ARL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARL2 were set to 30945270
Phenotypes for gene: ARL2 were set to Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-1 (MRCS1), MIM#619082
Review for gene: ARL2 was set to RED
Added comment: Single family reported, missense variant segregating with structural eye abnormalities in 4 individuals (father and three daughters).
Sources: Expert list
Mendeliome v0.0 ARL2BP Zornitza Stark gene: ARL2BP was added
gene: ARL2BP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARL2BP was set to Unknown