Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Monogenic hearing loss v5.49 DAP3 Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: DAP3.
Monogenic hearing loss v5.49 DAP3 Ida Ertmanska reviewed gene: DAP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic hearing loss v5.48 DAP3 Ida Ertmanska Source Expert Review Green was added to DAP3.
Source NHS GMS was added to DAP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic hearing loss v4.82 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).
Sources: Literature; 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.
Sources: Literature
Monogenic hearing loss v4.82 DAP3 Achchuthan Shanmugasundram Classified gene: DAP3 as Amber List (moderate evidence)
Monogenic hearing loss v4.82 DAP3 Achchuthan Shanmugasundram Added comment: 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.
Monogenic hearing loss v4.82 DAP3 Achchuthan Shanmugasundram Gene: dap3 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.81 DAP3 Achchuthan Shanmugasundram Added comment: 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.
Monogenic hearing loss v4.81 DAP3 Achchuthan Shanmugasundram Publications for gene: DAP3 were set to 39701103
Monogenic hearing loss v4.80 DAP3 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: DAP3.
Monogenic hearing loss v4.80 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 for this gene.

This gene has been associated with relevant phenotypes in OMIM (MIM #621101).
Sources: Literature; 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).
Sources: Literature
Monogenic hearing loss v4.80 DAP3 Achchuthan Shanmugasundram gene: DAP3 was added
gene: DAP3 was added to Monogenic hearing loss. 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 GREEN
Added comment: 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 for this gene.

This gene has been associated with relevant phenotypes in OMIM (MIM #621101).
Sources: Literature