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| Mendeliome v1.4586 | KLHL15 |
Sangavi Sivagnanasundram changed review comment from: A male individual presenting with impaired intelligence, short stature, frequent hypoglycaemia and periodic fever. Hemizygous variant was identified in the proband c.736 C>T p.(Arg246*) - absent from gnomAD v4.1; to: Additional male individual presenting with impaired intelligence, short stature, frequent hypoglycaemia and periodic fever. Hemizygous variant was identified in the proband c.736 C>T p.(Arg246*) - absent from gnomAD v4.1 |
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| Mendeliome v1.4586 | KLHL15 | Sangavi Sivagnanasundram reviewed gene: KLHL15: Rating: GREEN; Mode of pathogenicity: None; Publications: 37452054; Phenotypes: intellectual disability, X-linked 103 MONDO:0010508; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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