Muscular dystrophy and myopathy_Paediatric

Gene: DYNC1H1

Green List (high evidence)

DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 12 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Phenotypes can resemble those similar to congenital myopathy
Age of onset ranges from birth to early childhood

PMID: 22459677
Phenotypes included early childood onset of proximal leg weakness with muscle atropy and significant motor delay

PMID: 25609763
>10 individuals with SMA phenotypic features similar to congenital myopathy
Sources: Other
Created: 8 May 2023, 3:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600; MONDO:0008026)

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

The phenotype associated with this gene can sometimes resemble a myopathy. 4 families reported with heterozygous variants had an initial diagnosis resembling congenital myopathy or muscular dystrophy.
Sources: Expert list
Created: 23 Jul 2020, 12:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinal muscular atrophy, lower extremity-predominant 1, AD MIM#158600

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600
  • MONDO:0008026)
OMIM
600112
Clinvar variants
Variants in DYNC1H1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dync1h1 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dync1h1 has been classified as Green List (High Evidence).

8 May 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

gene: DYNC1H1 was added gene: DYNC1H1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYNC1H1 were set to PMID: 2245967; 25609763 Phenotypes for gene: DYNC1H1 were set to Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600; MONDO:0008026) Review for gene: DYNC1H1 was set to GREEN