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Inborn errors of metabolism v1.390 SKIV2L Catherine Snow Classified gene: SKIV2L as Green List (high evidence)
Inborn errors of metabolism v1.390 SKIV2L Catherine Snow Gene: skiv2l has been classified as Green List (High Evidence).
Inborn errors of metabolism v1.389 SKIV2L Catherine Snow reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444670, 30397475; Phenotypes: Trichohepatoenteric syndrome 2, 614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inborn errors of metabolism v1.47 SKIV2L Ivone Leong Source NHS GMS was added to SKIV2L.
Source London North GLH was added to SKIV2L.
Inborn errors of metabolism v0.4 SKIV2L Ellen McDonagh gene: SKIV2L was added
gene: SKIV2L was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SKIV2L were set to 27604308
Phenotypes for gene: SKIV2L were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Trichohepatoenteric syndrome 2 (Other metabolic disorders)