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Fetal anomalies

Gene: LAMC3

Green List (high evidence)
LAMC3 (laminin subunit gamma 3)
EnsemblGeneIds (GRCh38): ENSG00000050555
EnsemblGeneIds (GRCh37): ENSG00000050555
OMIM: 604349, Gene2Phenotype
LAMC3 is in 6 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green with biallelic MOI on this panel.
Created: 23 Oct 2025, 11:53 a.m. | Last Modified: 23 Oct 2025, 11:53 a.m.
Panel Version: 6.112
There are seven unrelated families reported with biallelic variants (either homozygous or compound heterozygous) in LAMC3 and cortical malformations. One these cases was a foetus reported with extensive posterior Periventricular nodular heterotopia (PMID:33639934).

In addition, PMID:30266093 (2018) reported a foetus with abnormalities identified via ultrasound and with compound heterozygous LAMC3 variants

Biallelic LAMC3 variants are associated with relevant phenotypes in OMIM (MIM #614115, record accessed on 21 October 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). This gene is also green with biallelic MOI on the Fetal anomalies panel of PanelApp Australia (https://panelapp-aus.org/panels/3763/gene/LAMC3/) Biallelic LAMC3 variants are not yet associated with any relevant phenotypes in ClinGen.

Monoallelic LAMC3 variants are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism expert panel in ClinGen (https://search.clinicalgenome.org/CCID:005265)

This was based on the following evidence:
Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340).
Created: 21 Oct 2025, 12:26 p.m. | Last Modified: 23 Oct 2025, 11:58 a.m.
Panel Version: 6.112

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cortical malformations, occipital, OMIM:614115; occipital pachygyria and polymicrogyria, MONDO:0013583

Publications

Created: 21 Oct 2025, 12:26 p.m.
Last Modified: 23 Oct 2025, 11:58 a.m.
Panel version: 6.107

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: OMIM phenotype accessed on 21st October 2025
Created: 21 Oct 2025, 12:17 p.m. | Last Modified: 21 Oct 2025, 12:17 p.m.
Panel Version: 6.106
Created: 21 Oct 2025, 12:17 p.m.
Last Modified: 21 Oct 2025, 12:17 p.m.
Panel version: 6.106

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PMID:30266093: AR/compound het variant identified in LAMC3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).
Created: 18 Apr 2019, 3:55 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for OCCIPITAL CORTICAL MALFORMATIONS
Created: 11 Dec 2018, 9:05 a.m.

Publications

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.185

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Cortical malformations, occipital, OMIM:614115
  • occipital pachygyria and polymicrogyria, MONDO:0013583
OMIM
604349
Clinvar variants
Variants in LAMC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Oct 2025, Gel status: 3

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: lamc3 has been classified as Green List (High Evidence).

21 Oct 2025, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: LAMC3 were set to 30266093

21 Oct 2025, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: LAMC3 were set to

21 Oct 2025, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: LAMC3 were changed from OCCIPITAL CORTICAL MALFORMATIONS to Cortical malformations, occipital, OMIM:614115; occipital pachygyria and polymicrogyria, MONDO:0013583

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: LAMC3 was added gene: LAMC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMC3 were set to OCCIPITAL CORTICAL MALFORMATIONS