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Early onset or syndromic epilepsy v9.60 LMAN2L Ida Ertmanska edited their review of gene: LMAN2L: Changed phenotypes to: ?Intellectual developmental disorder, autosomal dominant 69, OMIM:617863, ?Intellectual developmental disorder, autosomal recessive 52, OMIM:61688, intellectual disability, autosomal recessive 52, MONDO:0014815, intellectual developmental disorder, autosomal dominant 69, MONDO:0029465
Early onset or syndromic epilepsy v9.60 LMAN2L Ida Ertmanska edited their review of gene: LMAN2L: Changed phenotypes to: ?Intellectual developmental disorder, autosomal dominant 69, OMIM:617863, ?Intellectual developmental disorder, autosomal recessive 52, OMIM:61688, intellectual disability, autosomal recessive 52, MONDO:0014815
Early onset or syndromic epilepsy v9.60 LMAN2L Ida Ertmanska changed review comment from: Comment on list classification: There are now 3 unrelated probands reported in literature with biallelic LMAN2L variants and early-onset epilepsy. Hence, this gene can be promoted to Green at the next update.; to: Comment on list classification: There are now 3 unrelated probands reported in literature with biallelic LMAN2L variants and early-onset epilepsy. There is also one pedigree reported with a heterozygous LMAN2L variant segregating with tonic clonic seizures. Hence, this gene can be promoted to Green at the next update, with MOI set to 'BIALLELIC, autosomal or pseudoautosomal', until more evidence emerges for the dominant association.
Early onset or syndromic epilepsy v9.59 LMAN2L Ida Ertmanska commented on gene: LMAN2L: Comment on list classification: There are now 3 unrelated probands reported in literature with biallelic LMAN2L variants and early-onset epilepsy. Hence, this gene can be promoted to Green at the next update.
Early onset or syndromic epilepsy v9.59 LMAN2L Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 13th Aug 2026.
Early onset or syndromic epilepsy v9.59 LMAN2L Ida Ertmanska Phenotypes for gene: LMAN2L were changed from Intellectual disability; Epilepsy to ?Intellectual developmental disorder, autosomal dominant 69, OMIM:617863; ?Intellectual developmental disorder, autosomal recessive 52, OMIM:616887; intellectual developmental disorder, autosomal dominant 69, MONDO:0029465; intellectual disability, autosomal recessive 52, MONDO:0014815
Early onset or syndromic epilepsy v9.58 LMAN2L Ida Ertmanska Publications for gene: LMAN2L were set to 31020005; 26566883
Early onset or syndromic epilepsy v9.57 LMAN2L Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: LMAN2L.
Early onset or syndromic epilepsy v9.57 LMAN2L Ida Ertmanska reviewed gene: LMAN2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 37667433, 40221759; Phenotypes: ?Intellectual developmental disorder, autosomal dominant 69, OMIM:617863, ?Intellectual developmental disorder, autosomal recessive 52, OMIM:616887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v2.131 LMAN2L Arina Puzriakova Classified gene: LMAN2L as Amber List (moderate evidence)
Early onset or syndromic epilepsy v2.131 LMAN2L Arina Puzriakova Gene: lman2l has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v2.130 LMAN2L Arina Puzriakova gene: LMAN2L was added
gene: LMAN2L was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: LMAN2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMAN2L were set to 31020005; 26566883
Phenotypes for gene: LMAN2L were set to Intellectual disability; Epilepsy
Review for gene: LMAN2L was set to AMBER
Added comment: PMID: 26566883 (2015) - One consanguineous family with 7 individuals with ID and epilepsy. Five individuals presented mild epileptic seizures in the first year of life, until the age of 5 years when seizures stopped spontaneously without any medication. Typical seizure episodes lasted for 3 to 5 min. Epilepsy was also reported in two other family members, who died at the age of 7 and 16 years and therefore could not be included in the study. A homozygous LMAN2L missense variant (c.158 G>A, p.R53Q) segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.

PMID: 31020005 (2019) - One non-consanguineous family with 4 affected, harbouring a heterozygous frameshift LMAN2L variant (c.1073delT, p.Phe358Serfs*16) which segregated with disease in the family. All suffered generalised tonic‐clonic seizures in childhood, however all had undergone remission with normalized EEG by adolescence. Functional studies show the variant eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane.
Sources: Literature