Malformations of cortical development

Gene: LAMC3

Green List (high evidence)

LAMC3 (laminin subunit gamma 3)
EnsemblGeneIds (GRCh38): ENSG00000050555
EnsemblGeneIds (GRCh37): ENSG00000050555
OMIM: 604349, Gene2Phenotype
LAMC3 is in 5 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Recognised on G2P. Expert review green. Offered on UKGTN
Created: 19 Dec 2016, 10:40 a.m.

Usha Kini (Oxford Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Occipital cortical malformations

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
Phenotypes
  • Cortical malformations, occipital 614115
OMIM
604349
Clinvar variants
Variants in LAMC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for LAMC3 were set to 21572413

19 Dec 2016, Gel status: 3

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for LAMC3 were set to Cortical malformations, occipital 614115

19 Dec 2016, Gel status: 3

Upload gene information

Alice Gardham (Genomics England)

LAMC3 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

22 Nov 2016, Gel status: 0

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to Version 1 on 22nd November 2016

11 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

LAMC3 was created by sleigh

11 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

LAMC3 was added to Malformations of cortical developmentpanel. Sources: Other