Paediatric motor neuronopathies
Gene: DYNC1H1
reported in many families.
well recognised.Created: 2 Mar 2017, 3:59 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital lower limb Neuronopathy, lower leg wasting; absent reflexes; may have learning difficlties; cortical migration siorder; can present with neurogenic arthrogryposis
Mutations identified in at least four families with lower limb predominant SMACreated: 26 Jan 2017, 11:31 a.m.
Phenotypes for gene: DYNC1H1 were changed from Spinal muscular atrophy, lower extremity-predominant, AD, 158600 to Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Publications for DYNC1H1 were set to 22459677
Phenotypes for DYNC1H1 were set to Spinal muscular atrophy, lower extremity-predominant, AD, 158600
Mode of inheritance for DYNC1H1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
DYNC1H1 was added to Paediatric motor neuronopathiespanel. Sources: Expert
DYNC1H1 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen