Arina Puzriakova Added comment: Comment on mode of inheritance: Changed MOI from 'biallelic' to 'both mono- and biallelic' - features of dysautonomia are observed in multiple KIF1A-related phenotypes, including an autonomic-sensory neuropathy (MIM# 614213) associated with biallelic inheritance and NESCAV syndrome (MIM# 614255) caused by monoallelic variants in this gene. Therefore, both MOIs are pertinent to this panel.
Arina Puzriakova Mode of inheritance for gene: KIF1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arina Puzriakova Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC, OMIM:614213 to Neuropathy, hereditary sensory, type IIC, OMIM:614213; NESCAV syndrome, OMIM:614255
Arina Puzriakova Phenotypes for gene: KIF1A were changed from Neuropathy, hereditary sensory, type IIC 614213 to Neuropathy, hereditary sensory, type IIC, OMIM:614213