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Intellectual disability v11.7 LMAN2L Ida Ertmanska Tag watchlist was removed from gene: LMAN2L.
Tag Q3_26_promote_green tag was added to gene: LMAN2L.
Intellectual disability v11.7 LMAN2L Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 13th Aug 2026.
Intellectual disability v11.7 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:61688; intellectual disability, autosomal recessive 52, MONDO:0014815; intellectual developmental disorder, autosomal dominant 69, MONDO:0029465
Intellectual disability v11.6 LMAN2L Ida Ertmanska Publications for gene: LMAN2L were set to 31020005; 26566883
Intellectual disability v11.5 LMAN2L Ida Ertmanska Mode of inheritance for gene: LMAN2L was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v11.4 LMAN2L Ida Ertmanska commented on gene: LMAN2L: There are now 3 unrelated probands reported in literature with biallelic LMAN2L variants and severe GDD/ID. There is also one pedigree reported with a heterozygous LMAN2L variant segregating with ID. 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.
Intellectual disability v11.4 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
Intellectual disability v3.211 LMAN2L Arina Puzriakova Classified gene: LMAN2L as Amber List (moderate evidence)
Intellectual disability v3.211 LMAN2L Arina Puzriakova Added comment: Comment on list classification: Two families with ID phenotype (one mild, one severe). Amber rating as additional cases and functional data are required to validate the causal association with the phenotype.
Intellectual disability v3.211 LMAN2L Arina Puzriakova Gene: lman2l has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.210 LMAN2L Arina Puzriakova Tag watchlist tag was added to gene: LMAN2L.
Intellectual disability v3.0 LMAN2L Zornitza Stark gene: LMAN2L was added
gene: LMAN2L was added to Intellectual disability. Sources: Expert list
Mode of inheritance for gene: LMAN2L was set to BOTH monoallelic and 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: 1 consanguineous family with 7 individuals with ID and epilepsy, with homozygous LMAN2L missense mutation. Segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.

1 non-consanguineous family with 4 affected with heterozygous frameshift LMAN2L mutation. Segregates in family. Mutation eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane.

Amber or Red.
Sources: Expert list