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| DDG2P v5.44 | CRYAB | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CRYAB-related alpha-related B crystallinopathy is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 14681890;21130652;21337604;570292;28493373;9731540;23590293;19597569;30681346;16877416;16505043;38212463;32420686;11577372;21920752). The DDG2P confidence category for the disease CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 21337604).; to: The DDG2P confidence category for the disease CRYAB-related alpha-related B crystallinopathy is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typified by age related penetrance (PMID: 14681890;21130652;21337604;570292;28493373;9731540;23590293;19597569;30681346;16877416;16505043;38212463;32420686;11577372;21920752). The DDG2P confidence category for the disease CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 21337604). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.10 | CRYAB | Achchuthan Shanmugasundram Publications for gene: CRYAB were set to 11577372; 21337604 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.9 | CRYAB | Achchuthan Shanmugasundram Phenotypes for gene: CRYAB were changed from MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869; CATARACT POSTERIOR POLAR TYPE 2 613763 to CRYAB-related alpha-related B crystallinopathy; CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.8 | CRYAB | Achchuthan Shanmugasundram edited their review of gene: CRYAB: Changed phenotypes to: CRYAB-related alpha-related B crystallinopathy, CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | CRYAB | Achchuthan Shanmugasundram edited their review of gene: CRYAB: Added comment: The DDG2P confidence category for the disease CRYAB-related alpha-related B crystallinopathy is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 14681890;21130652;21337604;570292;28493373;9731540;23590293;19597569;30681346;16877416;16505043;38212463;32420686;11577372;21920752). The DDG2P confidence category for the disease CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 21337604).; Changed rating: GREEN; Changed publications to: 570292, 9731540, 11577372, 21130652, 38212463, 19597569, 16877416, 14681890, 30681346, 21920752, 16505043, 21337604, 28493373, 23590293, 32420686; Changed phenotypes to: CRYAB-related alpha-related B crystallinopathy, CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED, OMIM:613869, CATARACT POSTERIOR POLAR TYPE 2, OMIM:613763; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | CRYAB |
Achchuthan Shanmugasundram Source Expert Review Green was added to CRYAB. Mode of inheritance for gene CRYAB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | CRYAB | Achchuthan Shanmugasundram reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: 11577372, 21337604; Phenotypes: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED, OMIM:613869, CATARACT POSTERIOR POLAR TYPE 2, OMIM:613763; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CRYAB | Achchuthan Shanmugasundram Publications for gene: CRYAB were updated from 21337604 to 11577372; 21337604 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRYAB | Rebecca Foulger reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CRYAB |
Rebecca Foulger Added phenotypes MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869 for gene: CRYAB Publications for gene CRYAB were changed from 11577372 to 21337604 |
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| DDG2P v0.1 | CRYAB |
Rebecca Foulger gene: CRYAB was added gene: CRYAB was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CRYAB were set to 11577372 Phenotypes for gene: CRYAB were set to CATARACT POSTERIOR POLAR TYPE 2 613763 |
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