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Intellectual disability

Gene: DAP3

Amber List (moderate evidence)
DAP3 (death associated protein 3)
EnsemblGeneIds (GRCh38): ENSG00000132676
EnsemblGeneIds (GRCh37): ENSG00000132676
OMIM: 602074, Gene2Phenotype
DAP3 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: This gene is currently rated amber as there is only one case identified with severe ID, while two other cases had only mild ID.
Created: 22 Mar 2025, 2:54 p.m. | Last Modified: 22 Mar 2025, 10:20 p.m.
Panel Version: 8.174
Comment on publications: PMID:39701103 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 22 Mar 2025, 2:53 p.m. | Last Modified: 22 Mar 2025, 2:53 p.m.
Panel Version: 8.168
PMID:39701103 reported the identification of biallelic variants in DAP3 gene in five unrelated individuals presenting with variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. All five individuals had bilateral sensorineural hearing loss and the severity was profound in three of them, while not reported in the other two. Severe intellectual disability was reported in one individual and mild ID was reported in two individuals. There is also functional evidence available.

This gene has been associated with relevant phenotypes in OMIM (MIM #621101), but not yet in Gene2Phenotype.
Sources: Literature
Created: 22 Mar 2025, 2:53 p.m. | Last Modified: 22 Mar 2025, 10:34 p.m.
Panel Version: 8.174

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 7, OMIM:621101

Publications

Created: 22 Mar 2025, 2:53 p.m.
Last Modified: 22 Mar 2025, 10:34 p.m.
Panel version: 8.172

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Perrault syndrome 7, OMIM:621101
OMIM
602074
Clinvar variants
Variants in DAP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: dap3 has been classified as Amber List (Moderate Evidence).

22 Mar 2025, Gel status: 1

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: dap3 has been classified as Red List (Low Evidence).

22 Mar 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: DAP3 were set to 39701103

22 Mar 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DAP3 was added gene: DAP3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAP3 were set to 39701103 Phenotypes for gene: DAP3 were set to Perrault syndrome 7, OMIM:621101 Review for gene: DAP3 was set to RED