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| Syndromic Retinopathy v0.225 | ARL2BP | Zornitza Stark reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 82 with or without situs inversus, MIM# 615434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.225 | ARL2BP | Zornitza Stark Phenotypes for gene: ARL2BP were changed from Ciliopathy MONDO:0005308 to Retinitis pigmentosa 82 with or without situs inversus, MIM# 615434 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.224 | ARL2BP | Zornitza Stark Marked gene: ARL2BP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.224 | ARL2BP | Zornitza Stark Gene: arl2bp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.224 | ARL2BP | Zornitza Stark Classified gene: ARL2BP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.224 | ARL2BP | Zornitza Stark Gene: arl2bp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.223 | ARL2BP |
Sangavi Sivagnanasundram gene: ARL2BP was added gene: ARL2BP was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL2BP were set to 23849777; 31425546; 36507858; 38649918 Phenotypes for gene: ARL2BP were set to Ciliopathy MONDO:0005308 Review for gene: ARL2BP was set to GREEN Added comment: Classified as Definitive by ClinGen Retina GCEP on 02/01/2025 - https://search.clinicalgenome.org/CCID:004172 Affected individuals present with different forms of ocular phenotypes along with other non-ocular phenotypes. Sources: Expert Review |
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