Deafness and congenital structural abnormalities

Gene: DAP3

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (five unrelated cases and functional work) for the promotion of this gene to green rating on this panel.

Created: 22 Mar 2025, 2:50 p.m. | Last Modified: 22 Mar 2025, 2:50 p.m.

Panel Version: 1.30

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.

Created: 22 Mar 2025, 2:49 p.m. | Last Modified: 22 Mar 2025, 10:37 p.m.

Panel Version: 1.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome 7, OMIM:621101

Publications

• 39701103

Green List (high evidence)

This is a new description of hypomorphic biallelic variants resulting in a multi system disorder including SNHL
Biallelic LoF variants are unlikely to viable
Sources: Literature

Created: 2 Mar 2025, 9:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sensorineural hearing loss; primary ovarian insufficiency; lactic acidosis; intellectual disability

Publications

• PMID:39701103

Mode of pathogenicity
Other