Intellectual disability syndromic and non-syndromic
Gene: LAMC3

LAMC3 (laminin subunit gamma 3)
EnsemblGeneIds (GRCh38): ENSG00000050555
EnsemblGeneIds (GRCh37): ENSG00000050555
OMIM: 604349, Gene2Phenotype
LAMC3 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mono-allelic disease DISPUTED by ClinGen:

LAMC3 was first reported in relation to autosomal dominant complex neurodevelopmental disorder in 2011 (21572417: O'Roak et al. 2011). Over 25 unique variants have been reported in humans. Autism spectrum disorder was the primary ascertainment for the largest number of individuals, but variants have also been reported in probands with intellectual disability and/or developmental delay as well. The variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (21572417: O'Roak et al. 2011; 23160955: O’Roak et al. 2012; 27525107: Yuen et al. 2016; 28965761: Turner et al. 2017; 28191889: Stessman et al. 2017; 30564305: Guo et al. 2018; 31398340: Ruzzo et al. 2019). Recent large-scale case-control studies also failed to identify a significant association between variation in the gene and autism spectrum disorder (31398340: Ruzzo et al. 2019; 31981491: Satterstrom et al. 2020). A potential mechanism of disease has not been delineated, and no experimental data were identified that provided specific support for this gene-disease relationship. In summary, there is convincing evidence disputing the relationship between LAMC3 and autosomal dominant complex neurodevelopmental disorder. More evidence is needed to either support or refute the role LAMC3 plays in this disease.

Balletic disease: at least three families reported, though one is hmz missense and another has LoF variant in trans with non-canonical variant.
Created: 20 May 2024, 11:08 a.m. | Last Modified: 20 May 2024, 11:08 a.m.

Panel Version: 0.5867

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
complex neurodevelopmental disorder MONDO:0100038; Cortical malformations, occipital, MIM# 614115

Publications

Created: 20 May 2024, 11:08 a.m.
Last Modified: 20 May 2024, 11:08 a.m.
Panel version: 0.5867

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified DISPUTED by ClinGen ID and Autism panel on 01/09/2020 - https://search.clinicalgenome.org/CCID:005265
Created: 16 May 2024, 6:21 a.m. | Last Modified: 16 May 2024, 6:21 a.m.

Panel Version: 0.5821

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
complex neurodevelopmental disorder MONDO:0100038

Publications

https://search.clinicalgenome.org/CCID:005265

Created: 16 May 2024, 6:21 a.m.
Last Modified: 16 May 2024, 6:21 a.m.
Panel version: 0.5821

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
Genetic Health Queensland

Phenotypes

complex neurodevelopmental disorder MONDO:0100038
Cortical malformations, occipital, MIM# 614115

OMIM

604349

Clinvar variants

Variants in LAMC3

Penetrance

None

Publications

Panels with this gene