1. Panels
  2. Speech apraxia
  3. DIP2C
STRs in panel
Prev Next
Regions in panel
Prev Next

Speech apraxia

Gene: DIP2C

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

1 review

Thomas Scerri (Murdoch Children's Research Institute)

I don't know

First reported CAS proband with a de novo DIP2C splice acceptor variant (Kaspi et al., 2022; PMID: 36117209).

Ha et al. (2024; PMID: 38421105) report 23 cases with various DIP2C variants, including the one published by Kaspi et al. (2022; PMID: 36117209). All 23 cases have various speech deficits and two (including the Kaspi et al. (2022) case) are reported having speech apraxia.
Sources: Expert list, Expert Review
Created: 25 Jun 2024, 1:38 p.m. | Last Modified: 1 Jul 2024, 9:01 a.m.
Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 25 Jun 2024, 1:38 p.m.
Last Modified: 1 Jul 2024, 9:01 a.m.
Panel version: 0.8

Details

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

History Filter Activity

13 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Jun 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).

26 Jun 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).

25 Jun 2024, Gel status: 0

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

Thomas Scerri (Murdoch Children's Research Institute)

gene: DIP2C was added gene: DIP2C was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DIP2C were set to 36117209; 38421105 Phenotypes for gene: DIP2C were set to Neurodevelopmental disorder (MONDO:0700092), DIP2C-related Review for gene: DIP2C was set to AMBER