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| Intellectual disability v5.313 | KLHL20 | Eleanor Williams commented on gene: KLHL20 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.313 | KLHL20 | Eleanor Williams Tag gene-checked tag was added to gene: KLHL20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.295 | KLHL20 | Arina Puzriakova Tag Q4_22_promote_green was removed from gene: KLHL20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.286 | KLHL20 | Arina Puzriakova edited their review of gene: KLHL20: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.286 | KLHL20 |
Arina Puzriakova Source NHS GMS was added to KLHL20. Source Expert Review Green was added to KLHL20. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v4.18 | KLHL20 | Arina Puzriakova Tag Q4_22_promote_green tag was added to gene: KLHL20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.18 | KLHL20 | Arina Puzriakova Classified gene: KLHL20 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.18 | KLHL20 |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel review. ----- Sleyp et al. 2022 (PMID: 36214804) reported on 14 patients with de novo missense variants who all presented with mild to severe ID, seizures, ASD, hyperactivity, and dysmorphic facial features. One variant (c.1069G>A, p.Gly357Arg) was recurrent in 11/14 cases but all variants clustered in the Kelch-type β-propeller domain (substrate binding surface) of the KLHL20 protein. No functional studies were performed but given the overlap in clinical presentation observed in patients with the same recurrent variant but also multiple different variants, its worth including as diagnostic-grade. |
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| Intellectual disability v4.18 | KLHL20 | Arina Puzriakova Gene: klhl20 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.2 | KLHL20 |
Dmitrijs Rots gene: KLHL20 was added gene: KLHL20 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLHL20 were set to 36214804 Phenotypes for gene: KLHL20 were set to developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder Penetrance for gene: KLHL20 were set to unknown Mode of pathogenicity for gene: KLHL20 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: KLHL20 was set to GREEN Added comment: More 14 individuals with mostly recurrent missense variant reported in KLHL20 Sources: Literature |
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