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  2. Leukodystrophy - paediatric
  3. CIC
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Leukodystrophy - paediatric

Gene: CIC

Green List (high evidence)
CIC (capicua transcriptional repressor)
EnsemblGeneIds (GRCh38): ENSG00000079432
EnsemblGeneIds (GRCh37): ENSG00000079432
OMIM: 612082, Gene2Phenotype
CIC is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

White matter changes described on imaging.
Sources: Expert list
Created: 23 Nov 2019, 10:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 45, MIM#617600

Created: 23 Nov 2019, 10:05 a.m.

Panel version: Imported from Leukodystrophy panel version 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Mental retardation, autosomal dominant 45 617600
OMIM
612082
Clinvar variants
Variants in CIC
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CIC was added gene: CIC was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CIC were set to Mental retardation, autosomal dominant 45 617600