Hereditary ataxiaGene: DYNC1H1
Not sure about this - ataxia seems a very rare part of phenotype
Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Red List (Low Evidence).
Phenotypes for DYNC1H1 were set to Charcot Marie Tooth, SMA, Intellectual disability
DYNC1H1 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services