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Early onset or syndromic epilepsy v9.72 DHX16 Achchuthan Shanmugasundram Phenotypes for gene: DHX16 were changed from Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 neuromuscular disease and ocular or auditory anomalies with or without seizures, MONDO:0032890 to Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733; neuromuscular disease and ocular or auditory anomalies with or without seizures, MONDO:0032890
Early onset or syndromic epilepsy v9.71 DHX16 Ida Ertmanska Phenotypes for gene: DHX16 were changed from Neuromuscular disease and ocular or auditory anomalies with or without seizures 618733 to Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 neuromuscular disease and ocular or auditory anomalies with or without seizures, MONDO:0032890
Early onset or syndromic epilepsy v9.70 DHX16 Ida Ertmanska edited their review of gene: DHX16: Changed phenotypes to: Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 neuromuscular disease and ocular or auditory anomalies with or without seizures, MONDO:0032890
Early onset or syndromic epilepsy v9.70 DHX16 Achchuthan Shanmugasundram Publications for gene: DHX16 were set to 31256877
Early onset or syndromic epilepsy v9.69 DHX16 Achchuthan Shanmugasundram Mode of inheritance for gene: DHX16 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v9.57 DHX16 Ida Ertmanska commented on gene: DHX16: Comment on list classification: There are at least 12 unrelated probands reported in literature with heterozygous missense variants in DHX16 (11 confirmed de novo). These individuals had a syndromic presentation, including hearing loss (8/12), retinopathy (9/12), and neuromuscular disease (9/12). 3 unrelated individuals presented with infantile spasms / epilepsy. Hence, this gene should be promoted to Green on Early onset or syndromic epilepsy at the next update.
Early onset or syndromic epilepsy v9.57 DHX16 Ida Ertmanska Tag watchlist was removed from gene: DHX16.
Tag Q3_26_promote_green tag was added to gene: DHX16.
Early onset or syndromic epilepsy v9.57 DHX16 Ida Ertmanska edited their review of gene: DHX16: Changed rating: GREEN
Early onset or syndromic epilepsy v9.57 DHX16 Ida Ertmanska reviewed gene: DHX16: Rating: RED; Mode of pathogenicity: None; Publications: 31256877, 36212160, 36211162, 37574199, 37664979, 40141454, 41555919; Phenotypes: 31256877, 36212160, 36211162, 37574199, 37664979, 40141454, 41555919; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v2.280 DHX16 Helen Lord reviewed gene: DHX16: Rating: AMBER; Mode of pathogenicity: None; Publications: 31256877; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v2.154 DHX16 Sarah Leigh Tag watchlist tag was added to gene: DHX16.
Early onset or syndromic epilepsy v2.154 DHX16 Sarah Leigh Classified gene: DHX16 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.154 DHX16 Sarah Leigh Gene: dhx16 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.153 DHX16 Sarah Leigh gene: DHX16 was added
gene: DHX16 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DHX16 were set to 31256877
Phenotypes for gene: DHX16 were set to Neuromuscular disease and ocular or auditory anomalies with or without seizures 618733
Review for gene: DHX16 was set to AMBER
Added comment: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene for Intellectual Disability, Central Nervous System anomalies and Seizures. At least 4 variants reported as de novo heterozygous variants in 4 unrelated probands as a result of trio exome sequencing and seizures were reported in 2 of these cases. No functional studies were reported.
Sources: Literature