Activity
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| Hereditary neuropathy or pain disorder v7.32 | KIF21A | Eleanor Williams Phenotypes for gene: KIF21A were changed from CFEOM; agenesis of the corpus callosum; peripheral neuropathy to CFEOM; agenesis of the corpus callosum; peripheral neuropathy, MONDO:0005244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.31 | KIF21A | Ida Ertmanska Publications for gene: KIF21A were set to 39643435; 41282472 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.30 | KIF21A | Ida Ertmanska Classified gene: KIF21A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.30 | KIF21A | Ida Ertmanska Gene: kif21a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.29 | KIF21A |
Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: KIF21A. Tag Q4_25_NHS_review tag was added to gene: KIF21A. |
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| Hereditary neuropathy or pain disorder v7.29 | KIF21A | Ida Ertmanska commented on gene: KIF21A: Comment on list classification: There are 3 unrelated individuals with progressive peripheral neuropathy reported with de novo heterozygous missense variants localised in the second coiled‑coil domain of KIF21A. Variants in other KIF21A domains are not known to cause neuropathy. Based on available evidence, KIF21A should be promoted to Green for Hereditary neuropathy or pain disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.29 | KIF21A | Ida Ertmanska reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22699964, 32141982, 37921537, 39643435, 41282472; Phenotypes: CFEOM, agenesis of the corpus callosum, peripheral neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.29 | KIF21A |
Alexander Rossor gene: KIF21A was added gene: KIF21A was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21A were set to 39643435; 41282472 Phenotypes for gene: KIF21A were set to CFEOM; agenesis of the corpus callosum; peripheral neuropathy Penetrance for gene: KIF21A were set to Complete Mode of pathogenicity for gene: KIF21A 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: KIF21A was set to AMBER Added comment: Currently only two unrelated individuals reported with peripheral neuropathy Sources: Expert list |
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