Paediatric motor neuronopathies
Gene: DYNC1H1

DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 13 panels

2 reviews

Pinki Munot (Consultant )

Green List (high evidence)

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

Created: 2 Mar 2017, 3:59 p.m.

Panel version: 0.89

Alice Gardham (Genomics England)

Mutations identified in at least four families with lower limb predominant SMA
Created: 26 Jan 2017, 11:31 a.m.

Created: 2 Nov 2016, 2:40 p.m.

Panel version: 0.17

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert
Radboud University Medical Center, Nijmegen

Phenotypes

Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600

OMIM

600112

Clinvar variants

Variants in DYNC1H1

Penetrance

Complete

Publications

22459677

Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

7 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

26 Jan 2017, Gel status: 4