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| DDG2P v4.10 | ARL6 | Achchuthan Shanmugasundram edited their review of gene: ARL6: Added comment: The DDG2P confidence category for the disease BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 15258860;16606853;10973238;15314642;9714014;11567139;8298649;12118255;20618352; 18203199;18327255;15137946;20805367;17160889;12524598;16582908;11381270;20671153;12016587; 14520415;7987310;7711739;12567324;21937992;16308660;12837689;10973251;22353939;16380913). The DDG2P confidence category for the disease ARL6-related retinal dystrophy, OMIM:613575 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 31736247;28130426;19956407).; Changed publications to: 17160889, 14520415, 16380913, 20805367, 15258860, 12118255, 18327255, 22353939, 21937992, 8298649, 11381270, 15137946, 16606853, 20671153, 16582908, 15314642, 7987310, 10973238, 12567324, 10973251, 16308660, 12837689, 20618352, 9714014, 12524598, 7711739, 19956407, 31736247, 12016587, 28130426, 18203199, 11567139; Changed phenotypes to: RETINITIS PIGMENTOSA TYPE 55, OMIM:613575, BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151, ARL6-related retinal dystrophy, OMIM:613575 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARL6 | Achchuthan Shanmugasundram reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12016587, 11381270, 16582908, 15137946, 12118255, 19956407, 21937992, 20805367, 15314642, 12567324, 22353939, 15258860, 20618352, 16380913, 11567139, 7711739, 16308660, 16606853, 18327255, 10973251, 12837689, 18203199, 8298649, 17160889, 14520415, 9714014, 12524598, 10973238, 20671153, 7987310; Phenotypes: BARDET-BIEDL SYNDROME TYPE 3, OMIM:600151, RETINITIS PIGMENTOSA TYPE 55, OMIM:613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARL6 | Achchuthan Shanmugasundram Publications for gene: ARL6 were updated from 19956407 to 12016587; 11381270; 7987310; 16582908; 15137946; 12118255; 19956407; 21937992; 20805367; 15314642; 12567324; 22353939; 15258860; 20618352; 11567139; 7711739; 16308660; 16606853; 18327255; 10973251; 12837689; 18203199; 8298649; 17160889; 14520415; 9714014; 12524598; 10973238; 20671153; 16380913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARL6 | Rebecca Foulger reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ARL6 |
Rebecca Foulger Added phenotypes RETINITIS PIGMENTOSA TYPE 55 613575 for gene: ARL6 Publications for gene ARL6 were changed from 20618352; 11381270; 16582908; 18327255; 11567139; 20805367; 21937992; 17160889; 7987310; 16380913; 12837689; 10973238; 16606853; 18203199; 7711739; 8298649; 14520415; 15314642; 15137946; 22353939; 10973251; 9714014; 12118255; 12524598; 20671153; 12567324; 12016587; 16308660 to 19956407 |
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| DDG2P v0.1 | ARL6 |
Rebecca Foulger gene: ARL6 was added gene: ARL6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6 were set to 20618352; 11381270; 16582908; 18327255; 11567139; 20805367; 21937992; 17160889; 7987310; 16380913; 12837689; 10973238; 16606853; 18203199; 7711739; 8298649; 14520415; 15314642; 15137946; 22353939; 10973251; 9714014; 12118255; 12524598; 20671153; 12567324; 12016587; 16308660 Phenotypes for gene: ARL6 were set to BARDET-BIEDL SYNDROME TYPE 3 209900 |
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