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| Mendeliome v0.2890 | ARL3 | Bryony Thompson Marked gene: ARL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2890 | ARL3 | Bryony Thompson Gene: arl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2890 | ARL3 | Bryony Thompson Classified gene: ARL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2890 | ARL3 | Bryony Thompson Gene: arl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2889 | ARL3 |
Bryony Thompson gene: ARL3 was added gene: ARL3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: ARL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ARL3 were set to 30269812; 16565502; 26964041; 30932721 Phenotypes for gene: ARL3 were set to Joubert syndrome 35 MIM#618161; Retinitis pigmentosa 83 MIM#618173 Review for gene: ARL3 was set to GREEN Added comment: 4 patients from 2 unrelated consanguineous families with a phenotype resembling Joubert syndrome with homozygous missense mutations affecting the same residue (R149C, R149H), and supporting in vitro functional assays. All reported cases had rod-cone dystrophy. An Arl3 null mouse model has a ciliary disease phenotype affecting the kidney, biliary tract, pancreas, and retina. Two unrelated families with retinitis pigmentosa segregating the same heterozygous missense variant (Y90C). Sources: Expert list |
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