Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.367 | ST14 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ST14 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ST14 | Achchuthan Shanmugasundram edited their review of gene: ST14: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ST14-related ichthyosis with hypotrichosis are strong, biallelic_autosomal and undetermined (PMIDs: 17273967, 18445049). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01285.; Changed publications to: 17273967, 18445049; Changed phenotypes to: OMIM:602400.0, MONDO:0011218, ST14-related ichthyosis with hypotrichosis, ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS, OMIM:610765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ST14 | Achchuthan Shanmugasundram reviewed gene: ST14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18445049, 17273967; Phenotypes: ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS, OMIM:610765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHST14 | Achchuthan Shanmugasundram reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: ; Publications: 20533528, 20004762; Phenotypes: EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE, OMIM:601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ST14 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ST14. Mode of pathogenicity for gene ST14 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CHST14 | Achchuthan Shanmugasundram Publications for gene: CHST14 were updated from to 20533528; 20004762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ST14 | Rebecca Foulger reviewed gene: ST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHST14 | Rebecca Foulger reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ST14 |
Rebecca Foulger gene: ST14 was added gene: ST14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST14 were set to 18445049; 17273967 Phenotypes for gene: ST14 were set to ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS 610765 Mode of pathogenicity for gene: ST14 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CHST14 |
Rebecca Foulger gene: CHST14 was added gene: CHST14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||