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| Hereditary Neuropathy - complex v1.49 | KIF21A | Zornitza Stark Marked gene: KIF21A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.49 | KIF21A | Zornitza Stark Gene: kif21a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.49 | KIF21A | Rylee Peters Classified gene: KIF21A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.49 | KIF21A | Rylee Peters Gene: kif21a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v1.48 | KIF21A |
Rylee Peters gene: KIF21A was added gene: KIF21A was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF21A were set to 37921537; 39643435; 41282472; 32141982; 24715754; 36494820; 22699964 Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700 Review for gene: KIF21A was set to GREEN Added comment: Autosomal dominant congenital fibrosis of extraocular muscles (CFEOM) is well established. This autosomal dominant condition is also associated with a spectrum of severity as a more complex disorder has also been reported in the literature including brain MRI anomalies, ataxia, peripheral neuropathy, contractures, facial weakness, delayed speech/motor development; intellectual disability has been reported in only 2 individuals (PMIDs: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964). Sources: Literature |
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