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Childhood onset dystonia, chorea or related movement disorder v6.5 DCC Arina Puzriakova Tag Q3_24_promote_green was removed from gene: DCC.
Childhood onset dystonia, chorea or related movement disorder v6.5 DCC Arina Puzriakova reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v6.4 DCC Arina Puzriakova Source NHS GMS was added to DCC.
Source Expert Review Green was added to DCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.10 DCC Achchuthan Shanmugasundram changed review comment from: 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.

Monoallelic variants of DCC gene has been associated with relevant phenotypes in OMIM (MIM #157600), but not yet in Gene2Phenotype.; to: 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.
Childhood onset dystonia, chorea or related movement disorder v4.10 DCC Achchuthan Shanmugasundram changed review comment from: 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 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.

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

Monoallelic variants of DCC gene has been associated with relevant phenotypes in OMIM (MIM #157600), but not yet in Gene2Phenotype.
Childhood onset dystonia, chorea or related movement disorder v4.10 DCC Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v4.10 DCC Achchuthan Shanmugasundram Added comment: 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.
Childhood onset dystonia, chorea or related movement disorder v4.10 DCC Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v4.9 DCC Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600
Childhood onset dystonia, chorea or related movement disorder v4.8 DCC Achchuthan Shanmugasundram Publications for gene: DCC were set to
Childhood onset dystonia, chorea or related movement disorder v4.7 DCC Achchuthan Shanmugasundram Mode of inheritance for gene: DCC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v4.6 DCC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DCC.
Childhood onset dystonia, chorea or related movement disorder v4.6 DCC Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19127048, 19720981, 20431009, 21242494, 28250454, 31697046; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v0.0 SDCCAG8 Ellen McDonagh gene: SDCCAG8 was added
gene: SDCCAG8 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDCCAG8 was set to
Childhood onset dystonia, chorea or related movement disorder v0.0 DCC Ellen McDonagh gene: DCC was added
gene: DCC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: DCC was set to