Activity
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| DDG2P v6.180 | GJC2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GJC2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GJC2 | Achchuthan Shanmugasundram edited their review of gene: GJC2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GJC2-related lymphatic malformation are moderate, monoallelic_autosomal and undetermined (PMID:20537300). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00533. The DDG2P confidence category, allelic requirement and molecular mechanism for GJC2-related leukodystrophy, hypomyelinating are definitive, biallelic_autosomal and undetermined (PMIDs: 15192806, 16969684, 18094336, 19056803, 8733901). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00695.; Changed publications to: 16969684, 20537300, 19056803, 8733901, 18094336, 15192806; Changed phenotypes to: MONDO:0013278, LEUKODYSTROPHY, HYPOMYELINATING, 2, OMIM:608804, OMIM:608804.0, MONDO:0012125, LYMPHEDEMA, HEREDITARY, IC, OMIM:613480, OMIM:613480.0, GJC2-related leukodystrophy, hypomyelinating, GJC2-related lymphatic malformation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GJC2 | Achchuthan Shanmugasundram reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20537300, 8733901, 18094336, 16969684, 15192806, 19056803; Phenotypes: LEUKODYSTROPHY, HYPOMYELINATING, 2, OMIM:608804, LYMPHEDEMA, HEREDITARY, IC, OMIM:613480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GJC2 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene GJC2 was changed from Other - please provide details in the comments to Other Publications for gene: GJC2 were updated from 16969684; 15192806; 8733901; 18094336 to 20537300; 8733901; 18094336; 16969684; 19056803; 15192806 |
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| DDG2P v1.60 | GJC2 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for LEUKODYSTROPHY, HYPOMYELINATING, 2; monoallelic for LYMPHEDEMA, HEREDITARY, IC; monoallelic for SPASTIC PARAPLEGIA, 44. All disorders have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.60 | GJC2 | Rebecca Foulger Mode of inheritance for gene: GJC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GJC2 | Rebecca Foulger reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GJC2 |
Rebecca Foulger Added phenotypes LEUKODYSTROPHY, HYPOMYELINATING, 2 608804 for gene: GJC2 Publications for gene GJC2 were changed from 19056803 to 16969684; 15192806; 8733901; 18094336 |
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| DDG2P v0.1 | GJC2 |
Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA, 44 613206 for gene: GJC2 Publications for gene GJC2 were changed from 20537300 to 19056803 |
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| DDG2P v0.1 | GJC2 |
Rebecca Foulger gene: GJC2 was added gene: GJC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GJC2 were set to 20537300 Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC 613480 Mode of pathogenicity for gene: GJC2 was set to Other - please provide details in the comments |
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