Malformations of cortical development
Gene: LAMA2
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 3:13 p.m. | Last Modified: 8 Mar 2022, 3:13 p.m.
Panel Version: 2.131
There is enough evidence for this gene to be rated GREEN at the next major review.Created: 19 Jan 2021, 2:34 p.m. | Last Modified: 19 Jan 2021, 2:34 p.m.
Panel Version: 2.34
Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants reported as biallelic in Muscular dystrophy, congenital, merosin deficient or partially deficient OMIM:607855, with over three cases exhibiting occipital agyria / polymicrogyria.Created: 19 Jan 2021, 2:34 p.m. | Last Modified: 19 Jan 2021, 2:34 p.m.
Panel Version: 2.34
Concur with review by Zornitza Stark.Created: 15 Jan 2021, 4:57 p.m. | Last Modified: 15 Jan 2021, 4:57 p.m.
Panel Version: 2.24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Malformations of cortical development are seen in a small proportion of individuals with biallelic LAMA2 variants. These were initially described and characterised based on immunohistochemistry showing loss of the protein associated with LAMA2. Reports where genotyping has been performed include: PMID: 20207543 – 7 individuals with biallelic LAMA2 variants and occipital agyria / polymicrogyria with a further 2 individuals with cortical folding abnormalities in other sites. PMID: 18406646 – 1 individual with a homozygous nonsense LAMA2 variant with extensive bilateral occipital polymicrogyria.
Sources: Expert listCreated: 27 Aug 2020, 11:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: LAMA2.
Source Expert Review Green was added to LAMA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: LAMA2.
Gene: lama2 has been classified as Amber List (Moderate Evidence).
Publications for gene: LAMA2 were set to 20207543; 18406646
Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 to Muscular dystrophy, congenital, merosin deficient or partially deficient OMIM:607855
gene: LAMA2 was added gene: LAMA2 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA2 were set to 20207543; 18406646 Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Review for gene: LAMA2 was set to GREEN gene: LAMA2 was marked as current diagnostic