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Genetic Epilepsy

Gene: DIP2C

Green List (high evidence)
DIP2C (disco interacting protein 2 homolog C)
EnsemblGeneIds (GRCh38): ENSG00000151240
EnsemblGeneIds (GRCh37): ENSG00000151240
OMIM: 611380, Gene2Phenotype
DIP2C is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Some of the variants were inherited but the phenotype is relatively mild with speech predominantly affected.
Created: 8 Mar 2024, 3:23 a.m. | Last Modified: 8 Mar 2024, 3:23 a.m.
Panel Version: 0.2333

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), DIP2C-related

Created: 8 Mar 2024, 3:23 a.m.
Last Modified: 8 Mar 2024, 3:23 a.m.
Panel version: 0.2333

Melanie Marty (Victorian Clinical Genetics Services)

I don't know

PMID: 38421105 - Twenty three patients with het DIP2C variants (10 de novo).
All patients had developmental delays affecting expressive language and speech, most had mild dev delay and ID. Four patients had seizures. Additional phenotypic findings were non-specific but recurrent anomalies did include a high anterior hair-line, prominent forehead, and a broad nasal tip. Four patients had cardiac defects (hypertrophic cardiomyopathy, atrial septal defects,and bicuspid aortic valve)
Created: 7 Mar 2024, 1:02 a.m. | Last Modified: 7 Mar 2024, 1:02 a.m.
Panel Version: 0.2330

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), DIP2C-related

Publications

Created: 7 Mar 2024, 1:02 a.m.
Last Modified: 7 Mar 2024, 1:02 a.m.
Panel version: 0.2330

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), DIP2C-related
OMIM
611380
Clinvar variants
Variants in DIP2C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dip2c has been classified as Green List (High Evidence).

7 Mar 2024, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: dip2c has been classified as Amber List (Moderate Evidence).

7 Mar 2024, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: dip2c has been classified as Amber List (Moderate Evidence).

7 Mar 2024, Gel status: 0

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

Melanie Marty (Victorian Clinical Genetics Services)

gene: DIP2C was added gene: DIP2C was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DIP2C were set to PMID: 38421105 Phenotypes for gene: DIP2C were set to Neurodevelopmental disorder (MONDO#0700092), DIP2C-related Review for gene: DIP2C was set to GREEN