Activity
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| Deafness and congenital structural abnormalities v1.30 | DAP3 |
Achchuthan Shanmugasundram changed review comment from: 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).; to: 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. |
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| Deafness and congenital structural abnormalities v1.30 | DAP3 | Achchuthan Shanmugasundram Classified gene: DAP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.30 | DAP3 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.30 | DAP3 | Achchuthan Shanmugasundram Gene: dap3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.29 | DAP3 | Achchuthan Shanmugasundram Publications for gene: DAP3 were set to PMID:39701103 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.28 | DAP3 | Achchuthan Shanmugasundram Phenotypes for gene: DAP3 were changed from Sensorineural hearing loss; primary ovarian insufficiency; lactic acidosis; intellectual disability to Perrault syndrome 7, OMIM:621101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.27 | DAP3 | Achchuthan Shanmugasundram reviewed gene: DAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39701103; Phenotypes: Perrault syndrome 7, OMIM:621101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness and congenital structural abnormalities v1.27 | DAP3 |
Bill Newman gene: DAP3 was added gene: DAP3 was added to Deafness and congenital structural abnormalities. Sources: Literature Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAP3 were set to PMID:39701103 Phenotypes for gene: DAP3 were set to Sensorineural hearing loss; primary ovarian insufficiency; lactic acidosis; intellectual disability Penetrance for gene: DAP3 were set to Complete Mode of pathogenicity for gene: DAP3 was set to Other Review for gene: DAP3 was set to GREEN Added comment: 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 |
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