Activity
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| Intellectual disability v11.28 | DEPDC5 |
Ida Ertmanska Tag Q3_26_demote_red was removed from gene: DEPDC5. Tag Q3_26_MOI tag was added to gene: DEPDC5. |
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| Intellectual disability v11.28 | DEPDC5 |
Ida Ertmanska changed review comment from: Comment on list classification: Based on large literature reviews, intellectual disability is present in only 12-28% of individuals with DEPDC5 variants. In addition, the ID severity is usually mild, and uniformly diagnosed in patients with existing epilepsy - likely secondary to seizures. Epilepsy is the presenting feature, reported in all patients with DEPDC5 variants. Hence, this gene should be downgraded to Red on this panel; DEPDC5 is already Green on Early onset or syndromic epilepsy. As this is a demotion, an 'expert-review' tag is added to ensure NHSE agreement.; to: Comment on mode of inheritance: Based on large literature reviews, intellectual disability is present in only 12-28% of individuals with monoallelic DEPDC5 variants. In addition, the ID severity is usually mild, and uniformly diagnosed in patients with existing epilepsy - likely secondary to seizures. Epilepsy is the presenting feature, reported in all patients with DEPDC5 variants, and this gene is already Green on Early onset or syndromic epilepsy. In patients with biallelic DEPDC5 variants, developmental delay is more severe, and was the presenting feature in several cases (PMID:36067010). Hence, the MOI should be changed from 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' to 'BIALLELIC, autosomal or pseudoautosomal' on this panel. As this is a demotion for monoallelic cases, an 'expert-review' tag is added to ensure NHSE agreement. |
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| Intellectual disability v11.28 | DEPDC5 | Ida Ertmanska edited their review of gene: DEPDC5: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.28 | DEPDC5 | Ida Ertmanska Added comment: Comment on phenotypes: Phenotypes updated on 1st Sept 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.28 | DEPDC5 | Ida Ertmanska Phenotypes for gene: DEPDC5 were changed from Epilepsy, familial focal, with variable foci 1, OMIM:604364 to Epilepsy, familial focal, with variable foci 1, OMIM:604364; epilepsy, familial focal, with variable foci 1, MONDO:0024556; Developmental and epileptic encephalopathy 111, OMIM:620504; developmental and epileptic encephalopathy 111, MONDO:0957780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.27 | DEPDC5 | Ida Ertmanska Publications for gene: DEPDC5 were set to 14510823; 15329069; 10825362; 10577924; 9851433; 23542701 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.26 | DEPDC5 |
Ida Ertmanska Tag Q3_26_expert_review tag was added to gene: DEPDC5. Tag Q3_26_demote_red tag was added to gene: DEPDC5. |
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| Intellectual disability v11.26 | DEPDC5 | Ida Ertmanska changed review comment from: Comment on list classification: Based on large literature review, intellectual disability is present in only 12-28% of individuals with DEPDC5 variants. In addition, the ID severity is usually mild, and uniformly diagnosed in patients with existing epilepsy - likely secondary to seizures. Epilepsy is the presenting feature, reported in all patients with DEPDC5 variants. Hence, this gene should be downgraded to Red on this panel; DEPDC5 is already Green on Early onset or syndromic epilepsy. As this is a demotion, an 'expert-review' tag is added to ensure NHSE agreement.; to: Comment on list classification: Based on large literature reviews, intellectual disability is present in only 12-28% of individuals with DEPDC5 variants. In addition, the ID severity is usually mild, and uniformly diagnosed in patients with existing epilepsy - likely secondary to seizures. Epilepsy is the presenting feature, reported in all patients with DEPDC5 variants. Hence, this gene should be downgraded to Red on this panel; DEPDC5 is already Green on Early onset or syndromic epilepsy. As this is a demotion, an 'expert-review' tag is added to ensure NHSE agreement. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.26 | DEPDC5 | Ida Ertmanska commented on gene: DEPDC5: Comment on list classification: Based on large literature review, intellectual disability is present in only 12-28% of individuals with DEPDC5 variants. In addition, the ID severity is usually mild, and uniformly diagnosed in patients with existing epilepsy - likely secondary to seizures. Epilepsy is the presenting feature, reported in all patients with DEPDC5 variants. Hence, this gene should be downgraded to Red on this panel; DEPDC5 is already Green on Early onset or syndromic epilepsy. As this is a demotion, an 'expert-review' tag is added to ensure NHSE agreement. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.26 | DEPDC5 | Ida Ertmanska edited their review of gene: DEPDC5: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.26 | DEPDC5 |
Ida Ertmanska edited their review of gene: DEPDC5: Added comment: https://www.ncbi.nlm.nih.gov/books/NBK385626/ - DEPDC5-Related Epilepsy entry on GeneReviews (Baulac & Baldassari, updated in 2023) states that 100% of individuals with DEPDC5-related disease present with epilepsy (most commonly frontal lobe seizures / sleep-related hypermotor epilepsy). Meanwhile, neurodevelopment and behaviour is normal in most reported cases. Intellectual disability was present in only 12% of individuals, and likely secondary to brain malfromations and infantile spasms. PMID: 41118617 Ochoa-Urrea et al., 2025 Review of 170 families with DEPDC5-Related Epilepsy. 76.1% of variant carriers developed epilepsy by age 10 years. Cortical malformations were present in 28% of those with available MRI. Early seizure onset strongly correlated with drug resistance (p = 2.4e-08), intellectual disability (p = 2.1e-08), and lesional MRI (p = 2.2e-08). Intellectual disability, usually mild, was identified in 27% of affected individuals, and psychiatric comorbidities—such as attention deficits, oppositional behaviours, mood disorders, and autism—affected 46% of the studied cohort. ID was reported exclusively in individuals with existing epilepsy.; Changed publications to: 32848577, 36067010, 41118617 |
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| Intellectual disability v11.26 | DEPDC5 |
Ida Ertmanska changed review comment from: BIALLELIC CASES - review by Achchuthan Shanmugasundram (Genomics England Curator), copied from Early onset or syndromic epilepsy panel: The association of monoallelic variants in DEPDC5 gene to familial focal epilepsy (MIM #604364) have already been established with previous reviews and the existence of this phenotype in both OMIM and Gene2Phenotype. PMID:32848577 reported a child with a homozygous missense variant (p.Pro1031His) who presented with cortical dysplasia and childhood onset epilepsy. PMID:36067010 reported homozygous missense variants in five unrelated families (three Irish Traveller families with same variant - p.Thr337Arg; and one Tunisian and one Lebanese families with the same variant - p.Arg806Cys). All nine children from these five families presented with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe psychomotor developmental delay. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. The disease mechanism is suggested as 'loss of function' as DEPDC5 is a repressor/inhibitor within the mTOR pathway. DEPDC5 is now associated with AR Developmental and epileptic encephalopathy 111, OMIM:620504, as well as AD Epilepsy, familial focal, with variable foci 1, OMIM:604364 (OMIM accessed 1st Sept 2026).; to: BIALLELIC CASES - review by Achchuthan Shanmugasundram (Genomics England Curator), copied from Early onset or syndromic epilepsy panel: The association of monoallelic variants in DEPDC5 gene to familial focal epilepsy (MIM #604364) have already been established with previous reviews and the existence of this phenotype in both OMIM and Gene2Phenotype. PMID:32848577 reported a child with a homozygous missense variant (p.Pro1031His) who presented with cortical dysplasia and childhood onset epilepsy. PMID:36067010 reported homozygous missense variants in five unrelated families (three Irish Traveller families with same variant - p.Thr337Arg; and one Tunisian and one Lebanese families with the same variant - p.Arg806Cys). All nine children from these five families presented with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe psychomotor developmental delay. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. The disease mechanism is suggested as 'loss of function' as DEPDC5 is a repressor/inhibitor within the mTOR pathway. DEPDC5 is now associated with AR Developmental and epileptic encephalopathy 111, OMIM:620504, as well as AD Epilepsy, familial focal, with variable foci 1, OMIM:604364 (OMIM accessed 1st Sept 2026). |
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| Intellectual disability v11.26 | DEPDC5 |
Ida Ertmanska changed review comment from: BIALLELIC CASES - review by Achchuthan Shanmugasundram (Genomics England Curator), copied from Early onset or syndromic epilepsy panel: The association of monoallelic variants in DEPDC5 gene to familial focal epilepsy (MIM #604364) have already been established with previous reviews and the existence of this phenotype in both OMIM and Gene2Phenotype. PMID:32848577 reported a child with a homozygous missense variant (p.Pro1031His) who presented with cortical dysplasia and childhood onset epilepsy. PMID:36067010 reported homozygous missense variants in five unrelated families (three Irish Traveller families with same variant - p.Thr337Arg; and one Tunisian and one Lebanese families with the same variant - p.Arg806Cys). All nine children from these five families presented with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe psychomotor developmental delay. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. The disease mechanism is suggested as 'loss of function' as DEPDC5 is a repressor/inhibitor within the mTOR pathway.; to: BIALLELIC CASES - review by Achchuthan Shanmugasundram (Genomics England Curator), copied from Early onset or syndromic epilepsy panel: The association of monoallelic variants in DEPDC5 gene to familial focal epilepsy (MIM #604364) have already been established with previous reviews and the existence of this phenotype in both OMIM and Gene2Phenotype. PMID:32848577 reported a child with a homozygous missense variant (p.Pro1031His) who presented with cortical dysplasia and childhood onset epilepsy. PMID:36067010 reported homozygous missense variants in five unrelated families (three Irish Traveller families with same variant - p.Thr337Arg; and one Tunisian and one Lebanese families with the same variant - p.Arg806Cys). All nine children from these five families presented with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe psychomotor developmental delay. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. The disease mechanism is suggested as 'loss of function' as DEPDC5 is a repressor/inhibitor within the mTOR pathway. DEPDC5 is now associated with AR Developmental and epileptic encephalopathy 111, OMIM:620504, as well as AD Epilepsy, familial focal, with variable foci 1, OMIM:604364 (OMIM accessed 1st Sept 2026). |
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| Intellectual disability v11.26 | DEPDC5 |
Ida Ertmanska changed review comment from: Literature review by Achchuthan Shanmugasundram (Genomics England Curator), copied from Early onset or syndromic epilepsy panel: The association of monoallelic variants in DEPDC5 gene to familial focal epilepsy (MIM #604364) have already been established with previous reviews and the existence of this phenotype in both OMIM and Gene2Phenotype. PMID:32848577 reported a child with a homozygous missense variant (p.Pro1031His) who presented with cortical dysplasia and childhood onset epilepsy. PMID:36067010 reported homozygous missense variants in five unrelated families (three Irish Traveller families with same variant - p.Thr337Arg; and one Tunisian and one Lebanese families with the same variant - p.Arg806Cys). All nine children from these five families presented with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe psychomotor developmental delay. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. The disease mechanism is suggested as 'loss of function' as DEPDC5 is a repressor/inhibitor within the mTOR pathway.; to: BIALLELIC CASES - review by Achchuthan Shanmugasundram (Genomics England Curator), copied from Early onset or syndromic epilepsy panel: The association of monoallelic variants in DEPDC5 gene to familial focal epilepsy (MIM #604364) have already been established with previous reviews and the existence of this phenotype in both OMIM and Gene2Phenotype. PMID:32848577 reported a child with a homozygous missense variant (p.Pro1031His) who presented with cortical dysplasia and childhood onset epilepsy. PMID:36067010 reported homozygous missense variants in five unrelated families (three Irish Traveller families with same variant - p.Thr337Arg; and one Tunisian and one Lebanese families with the same variant - p.Arg806Cys). All nine children from these five families presented with consistent phenotypic features including extensive bilateral polymicrogyria, congenital macrocephaly, early onset refractory epilepsy and severe psychomotor developmental delay. Skin biopsy immunohistochemistry suggested hyperactivation of the mTOR pathway. The disease mechanism is suggested as 'loss of function' as DEPDC5 is a repressor/inhibitor within the mTOR pathway. |
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| Intellectual disability v11.26 | DEPDC5 | Ida Ertmanska reviewed gene: DEPDC5: Rating: AMBER; Mode of pathogenicity: None; Publications: 32848577, 36067010; Phenotypes: Epilepsy, familial focal, with variable foci 1, OMIM:604364, epilepsy, familial focal, with variable foci 1, MONDO:0024556, Developmental and epileptic encephalopathy 111, OMIM:620504, developmental and epileptic encephalopathy 111, MONDO:0957780; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1261 | DEPDC5 | Arina Puzriakova Phenotypes for gene: DEPDC5 were changed from FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI (FFEVF) to Epilepsy, familial focal, with variable foci 1, OMIM:604364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | DEPDC5 | BRIDGE consortium edited their review of DEPDC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | DEPDC5 | BRIDGE consortium edited their review of DEPDC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | DEPDC5 | BRIDGE consortium reviewed DEPDC5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||