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Intellectual disability syndromic and non-syndromic

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

1 review

Ken Lee Wan (Monash Health)

Green List (high evidence)

DYNC1H1 is definitively associated with autosomal dominant dyneinopathy.

A spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations.

DYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT) and less frequently, intellectual disability and autism.

Mechanism of disease: gain of function
(https://search.clinicalgenome.org/CCID:004713) (http://purl.obolibrary.org/obo/MONDO_1040031) (OMIM: 600112)
Created: 13 Sep 2024, 5:56 a.m. | Last Modified: 13 Sep 2024, 6:15 a.m.
Panel Version: 0.6217

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
dyneinopathy MONDO:1040031

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

13 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Sep 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DYNC1H1 were changed from to dyneinopathy MONDO:1040031

13 Sep 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DYNC1H1 was added gene: DYNC1H1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DYNC1H1 was set to Unknown