Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Mendeliome v0.632 | KLHL15 | Zornitza Stark Marked gene: KLHL15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.632 | KLHL15 | Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.632 | KLHL15 | Zornitza Stark Classified gene: KLHL15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.632 | KLHL15 | Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.631 | KLHL15 |
Zornitza Stark gene: KLHL15 was added gene: KLHL15 was added to Mendeliome_VCGS. Sources: Literature Mode of inheritance for gene: KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KLHL15 were set to 25644381; 24817631 Phenotypes for gene: KLHL15 were set to Mental retardation, X-linked 103, MIM#300982 Review for gene: KLHL15 was set to AMBER Added comment: Two families described: variants maternally inherited in both, one deletion, the other truncating. Sources: Literature |