Early onset or syndromic epilepsy

Gene: BCL11A

Green List (high evidence)

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.

Created: 7 Jul 2026, 11:16 a.m. | Last Modified: 7 Jul 2026, 11:16 a.m.

Panel Version: 9.25

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

Created: 7 Jul 2026, 11:12 a.m. | Last Modified: 7 Jul 2026, 11:15 a.m.

Panel Version: 9.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dias-Logan syndrome, OMIM:617101; Dias-Logan syndrome, MONDO:0014914; BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin

Publications

• 28589569
• 32903878
• 39448799