19 Sep 2019
Undiagnosed metabolic disorders v1.280
CTSC
Sarah Leigh Added comment: Comment on phenotypes: Other lysosomal disorders, Cathepsin-related disorders;Unexplained skeletal dysplasia
19 Sep 2019
Undiagnosed metabolic disorders v1.280
CTSC
Sarah Leigh Phenotypes for gene: CTSC were changed from Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders); Unexplained skeletal dysplasia to Haim-Munk syndrome 245010; Papillon-Lefevre syndrome 245000; Periodontitis 1, juvenile 170650
19 Sep 2019
Undiagnosed metabolic disorders v1.279
CTSC
Sarah Leigh Classified gene: CTSC as Green List (high evidence)
19 Sep 2019
Undiagnosed metabolic disorders v1.279
CTSC
Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 13 variants identified in unrelated cases of Papillon-Lefevre syndrome 245000.
19 Sep 2019
Undiagnosed metabolic disorders v1.279
CTSC
Sarah Leigh Gene: ctsc has been classified as Green List (High Evidence).
19 Sep 2019
Undiagnosed metabolic disorders v1.278
CTSC
Sarah Leigh Deleted their comment
06 Jan 2017
Undiagnosed metabolic disorders
CTSC
Sarah Leigh commented on CTSC
06 Jan 2017
Undiagnosed metabolic disorders
CTSC
Sarah Leigh reviewed CTSC