Childhood onset dystonia, chorea or related movement disorder

Gene: DCC

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:25 p.m. | Last Modified: 24 Feb 2025, 5:25 p.m.

Panel Version: 6.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (at least eight unrelated families) for the association of monoallelic DCC variants with mirror movement disorder. Hence, this gene can be promoted to green rating in the next GMS update.

Created: 18 Jul 2024, 12:30 p.m. | Last Modified: 18 Jul 2024, 12:30 p.m.

Panel Version: 4.10

PMID:20431009 reported the identification of a splice site variant in DCC gene in a 4-generation French Canadian family and 1 bp insertion in a five-generation large Iranian family with congenital mirror movements. Incomplete penetrance was observed in these two families (PMIDs: 19127048 & 19720981).

PMID:21242494 reported the identification of a truncating variant in DCC gene in a 3-generation Italian family with in which 4 individuals had mirror movements of the arms and hands with onset in infancy or early childhood.

PMID:28250454 reported the identification of heterozygous DCC variants in individuals from four unrelated multigenerational families with congenital mirror movements and/or agenesis of the corpus callosum.

PMID:31697046 reported the identification of heterozygous frameshift variant in five members of an Ethiopian Jewish family, of which four members were symptomatic, showing reduced penetrance of the variant. Two pregnancies in this family were terminated due to prenatal detection of agenesis of the corpus callosum and dilated lateral ventricles. Only one of these foetuses were tested and carried the variant.

Monoallelic variants of DCC gene has been associated with relevant phenotypes in OMIM (MIM #157600), but not yet in Gene2Phenotype.

Created: 18 Jul 2024, 12:27 p.m. | Last Modified: 18 Jul 2024, 1:39 p.m.

Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600

Publications

• 19127048
• 19720981
• 20431009
• 21242494
• 28250454
• 31697046

Red List (low evidence)