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| Early onset or syndromic epilepsy v9.25 | BCL11A | Ida Ertmanska changed review comment from: Comment on list classification: There are at least 13 unrelated patients with heterozygous BCL11A variants and early-onset epilepsy. Hence, this gene should be promoted to Green at the next update.; to: Comment on list classification: There are at least 13 unrelated patients with heterozygous BCL11A variants and early-onset epilepsy (as part of Dias-Logan syndrome spectrum). Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.25 | BCL11A | Ida Ertmanska Classified gene: BCL11A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.25 | BCL11A | Ida Ertmanska Added comment: Comment on list classification: There are at least 13 unrelated patients with heterozygous BCL11A variants and early-onset epilepsy. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.25 | BCL11A | Ida Ertmanska Gene: bcl11a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.24 | BCL11A |
Ida Ertmanska changed review comment from: PMID: 28589569 Yoshida et al., 2018 2 probands with heterozygous de novo BCL11A variants (c.577delC (p.His193Metfs*3) and c.2351A>C (p.Lys784Thr)), with an epileptic encephalopathy. Seq method: WES. P1 - diagnosed with Lennox-Gastaut syndrome, seizure onset at 3yo; severe ID; head circumference at 14yrs was -2.6SD; no abnormalities on MRI P2 - diagnosed with West syndrome, seizure onset at 2 months old; profound ID; head circumference at 9yrs was -2.1SD; thin corpus callosum noted on MRI PMID: 32903878 Korenke et al., 2020 Report of a male proband with a de novo frameshift deletion (c.271delG; p.E91Afs*2) in the BCL11A gene. He presented with ID, generalised idiopathic epilepsy, and severe language delay. First presented with motor development delay and muscle hypotonia at 9 months old; epilepsy diagnosed at 40 months. PMID: 39448799 Peron et al., 2024 - lit review 25% of cases (13/53 patients) with heterozygous BCL11A variants had seizures, with median age of onset of 3 years. BCL11A is associated with AD Dias-Logan syndrome, OMIM:617101 (OMIM accessed 7th July 2026). Sources: Literature; to: PMID: 28589569 Yoshida et al., 2018 2 probands with heterozygous de novo BCL11A variants (c.577delC (p.His193Metfs*3) and c.2351A>C (p.Lys784Thr)), with an epileptic encephalopathy. Seq method: WES. P1 - diagnosed with Lennox-Gastaut syndrome, seizure onset at 3yo; severe ID; head circumference at 14yrs was -2.6SD; no abnormalities on MRI P2 - diagnosed with West syndrome, seizure onset at 2 months old; profound ID; head circumference at 9yrs was -2.1SD; thin corpus callosum noted on MRI PMID: 32903878 Korenke et al., 2020 Report of a male proband with a de novo frameshift deletion (c.271delG; p.E91Afs*2) in the BCL11A gene. He presented with ID, generalised idiopathic epilepsy, and severe language delay. First presented with motor development delay and muscle hypotonia at 9 months old; epilepsy diagnosed at 40 months. PMID: 39448799 Peron et al., 2024 - lit review 25% of cases (13/53 patients) with heterozygous BCL11A variants had seizures, with median age of onset of 3 years. In 33/40 cases with inheritance information, the het variants were confirmed de novo. DD/IDD was noted in 97% of individuals reported, though severity varied. Only 17% of the cases had severe/profound ID. BCL11A is associated with AD Dias-Logan syndrome, OMIM:617101 (OMIM accessed 7th July 2026). Sources: Literature |
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| Early onset or syndromic epilepsy v9.24 | BCL11A |
Ida Ertmanska changed review comment from: PMID: 28589569 Yoshida et al., 2018 2 probands with heterozygous de novo BCL11A variants (c.577delC (p.His193Metfs*3) and c.2351A>C (p.Lys784Thr)), with an epileptic encephalopathy. Seq method: WES. P1 - diagnosed with Lennox-Gastaut syndrome, seizure onset at 3yo; severe ID; head circumference at 14yrs was -2.6SD; no abnormalities on MRI P2 - diagnosed with West syndrome, seizure onset at 2 months old; profound ID; head circumference at 9yrs was -2.1SD; thin corpus callosum noted on MRI PMID: 32903878 Korenke et al., 2020 Report of a male proband with a de novo frameshift deletion (c.271delG; p.E91Afs*2) in the BCL11A gene. He presented with ID, generalised idiopathic epilepsy, and severe language delay. First presented with motor development delay and muscle hypotonia at 9 months old; epilepsy diagnosed at 40 months. PMID: 39448799 Peron et al., 2024 - lit review 25% of cases (13/53 patients) with biallelic BCL11A variants had seizures, with median age of onset of 3 years. BCL11A is associated with AD Dias-Logan syndrome, OMIM:617101 (OMIM accessed 7th July 2026). Sources: Literature; to: PMID: 28589569 Yoshida et al., 2018 2 probands with heterozygous de novo BCL11A variants (c.577delC (p.His193Metfs*3) and c.2351A>C (p.Lys784Thr)), with an epileptic encephalopathy. Seq method: WES. P1 - diagnosed with Lennox-Gastaut syndrome, seizure onset at 3yo; severe ID; head circumference at 14yrs was -2.6SD; no abnormalities on MRI P2 - diagnosed with West syndrome, seizure onset at 2 months old; profound ID; head circumference at 9yrs was -2.1SD; thin corpus callosum noted on MRI PMID: 32903878 Korenke et al., 2020 Report of a male proband with a de novo frameshift deletion (c.271delG; p.E91Afs*2) in the BCL11A gene. He presented with ID, generalised idiopathic epilepsy, and severe language delay. First presented with motor development delay and muscle hypotonia at 9 months old; epilepsy diagnosed at 40 months. PMID: 39448799 Peron et al., 2024 - lit review 25% of cases (13/53 patients) with heterozygous BCL11A variants had seizures, with median age of onset of 3 years. BCL11A is associated with AD Dias-Logan syndrome, OMIM:617101 (OMIM accessed 7th July 2026). Sources: Literature |
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| Early onset or syndromic epilepsy v9.24 | BCL11A |
Ida Ertmanska changed review comment from: PMID: 28589569 Yoshida et al., 2018 2 probands with heterozygous de novo BCL11A variants (c.577delC (p.His193Metfs*3) and c.2351A>C (p.Lys784Thr)), with an epileptic encephalopathy. Seq method: WES. P1 - diagnosed with Lennox-Gastaut syndrome, seizure onset at 3yo; severe ID; head circumference at 14yrs was -2.6SD; no abnormalities on MRI P2 - diagnosed with West syndrome, seizure onset at 2 months old; profound ID; head circumference at 9yrs was -2.1SD; thin corpus callosum noted on MRI PMID: 32903878 Korenke et al., 2020 Report of a male proband with a de novo frameshift deletion (c.271delG; p.E91Afs*2) in the BCL11A gene. He presented with ID, generalised idiopathic epilepsy, and severe language delay. First presented with motor development delay and muscle hypotonia at 9 months old; epilepsy diagnosed at 40 months. PMID: 39448799 Peron et al., 2024 - lit review 25% of cases (13/53 patients) with biallelic BCL11A variants had seizures, with median age of onset of 3 years. PMID: 39835253 Shu et al., 2025 Report of an 8-year-old Han Chinese male patient with Dias-Logan syndrome who carries a de novo heterozygous pathogenic variant, c.1078dupC (p.Leu360Profs*212), in the BCL11A gene, leading to ID and γ-globin suppression, identified through trio-WES. BCL11A is associated with AD Dias-Logan syndrome, OMIM:617101 (OMIM accessed 7th July 2026). Sources: Literature; to: PMID: 28589569 Yoshida et al., 2018 2 probands with heterozygous de novo BCL11A variants (c.577delC (p.His193Metfs*3) and c.2351A>C (p.Lys784Thr)), with an epileptic encephalopathy. Seq method: WES. P1 - diagnosed with Lennox-Gastaut syndrome, seizure onset at 3yo; severe ID; head circumference at 14yrs was -2.6SD; no abnormalities on MRI P2 - diagnosed with West syndrome, seizure onset at 2 months old; profound ID; head circumference at 9yrs was -2.1SD; thin corpus callosum noted on MRI PMID: 32903878 Korenke et al., 2020 Report of a male proband with a de novo frameshift deletion (c.271delG; p.E91Afs*2) in the BCL11A gene. He presented with ID, generalised idiopathic epilepsy, and severe language delay. First presented with motor development delay and muscle hypotonia at 9 months old; epilepsy diagnosed at 40 months. PMID: 39448799 Peron et al., 2024 - lit review 25% of cases (13/53 patients) with biallelic BCL11A variants had seizures, with median age of onset of 3 years. BCL11A is associated with AD Dias-Logan syndrome, OMIM:617101 (OMIM accessed 7th July 2026). Sources: Literature |
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| Early onset or syndromic epilepsy v9.24 | BCL11A | Ida Ertmanska edited their review of gene: BCL11A: Changed publications to: 28589569, 32903878, 39448799 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.24 | BCL11A |
Ida Ertmanska gene: BCL11A was added gene: BCL11A was added to Early onset or syndromic epilepsy. Sources: Literature Q3_26_promote_green tags were added to gene: BCL11A. Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BCL11A were set to 28589569; 32903878; 39835253 Phenotypes for gene: BCL11A were set to Dias-Logan syndrome, OMIM:617101; Dias-Logan syndrome, MONDO:0014914; BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin Review for gene: BCL11A was set to GREEN Added comment: PMID: 28589569 Yoshida et al., 2018 2 probands with heterozygous de novo BCL11A variants (c.577delC (p.His193Metfs*3) and c.2351A>C (p.Lys784Thr)), with an epileptic encephalopathy. Seq method: WES. P1 - diagnosed with Lennox-Gastaut syndrome, seizure onset at 3yo; severe ID; head circumference at 14yrs was -2.6SD; no abnormalities on MRI P2 - diagnosed with West syndrome, seizure onset at 2 months old; profound ID; head circumference at 9yrs was -2.1SD; thin corpus callosum noted on MRI PMID: 32903878 Korenke et al., 2020 Report of a male proband with a de novo frameshift deletion (c.271delG; p.E91Afs*2) in the BCL11A gene. He presented with ID, generalised idiopathic epilepsy, and severe language delay. First presented with motor development delay and muscle hypotonia at 9 months old; epilepsy diagnosed at 40 months. PMID: 39448799 Peron et al., 2024 - lit review 25% of cases (13/53 patients) with biallelic BCL11A variants had seizures, with median age of onset of 3 years. PMID: 39835253 Shu et al., 2025 Report of an 8-year-old Han Chinese male patient with Dias-Logan syndrome who carries a de novo heterozygous pathogenic variant, c.1078dupC (p.Leu360Profs*212), in the BCL11A gene, leading to ID and γ-globin suppression, identified through trio-WES. BCL11A is associated with AD Dias-Logan syndrome, OMIM:617101 (OMIM accessed 7th July 2026). Sources: Literature |
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