Monogenic hearing loss

Gene: DAP3

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 12 Dec 2025, 10:28 a.m. | Last Modified: 12 Dec 2025, 10:28 a.m.

Panel Version: 5.49

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (five unrelated cases and functional work) for the association of this gene to hearing loss. Hence, this gene can be promoted to green rating in the next GMS update.

Created: 22 Mar 2025, 2:47 p.m. | Last Modified: 22 Mar 2025, 2:47 p.m.

Panel Version: 4.82

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, 2:45 p.m. | Last Modified: 22 Mar 2025, 2:45 p.m.

Panel Version: 4.81

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, 2:43 p.m. | Last Modified: 22 Mar 2025, 10:35 p.m.

Panel Version: 4.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 7, OMIM:621101

Publications

• 39701103