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Intellectual disability

Gene: LMAN2L

No list

LMAN2L (lectin, mannose binding 2 like)
EnsemblGeneIds (GRCh38): ENSG00000114988
EnsemblGeneIds (GRCh37): ENSG00000114988
OMIM: 609552, Gene2Phenotype
LMAN2L is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

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
Created: 9 Feb 2020, 7:08 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; epilepsy

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Intellectual disability
  • epilepsy
OMIM
609552
Clinvar variants
Variants in LMAN2L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Feb 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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