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Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Marked gene: KLHL15 as ready
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Classified gene: KLHL15 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.1489 KLHL15 Zornitza Stark Gene: klhl15 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.1488 KLHL15 Zornitza Stark gene: KLHL15 was added
gene: KLHL15 was added to Intellectual disability, syndromic and non-syndromic_GHQ_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