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DDG2P

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 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for DIP2C-related developmental disorder with speech delay are moderate, monoallelic_autosomal and loss of function (PMID:38421105). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03573.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease DIP2C-related developmental disorder with speech delay is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure;decreased gene product level (PMID: 38421105).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
DIP2C-related developmental disorder with speech delay

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • DIP2C-related developmental disorder with speech delay
Tags
gene-checked
OMIM
611380
Clinvar variants
Variants in DIP2C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: DIP2C was changed from Other to None

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: DIP2C.

21 Feb 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DIP2C was added gene: DIP2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DIP2C were set to 38421105 Phenotypes for gene: DIP2C were set to DIP2C-related developmental disorder with speech delay Mode of pathogenicity for gene: DIP2C was set to Other