| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Malformations of cortical development v2.133 | LAMA2 | Eleanor Williams Tag for-review was removed from gene: LAMA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.131 | LAMA2 | Sarah Leigh commented on gene: LAMA2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.130 | LAMA2 |
Eleanor Williams Source Expert Review Green was added to LAMA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.34 | LAMA2 | Sarah Leigh edited their review of gene: LAMA2: Added comment: There is enough evidence for this gene to be rated GREEN at the next major review.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.34 | LAMA2 | Sarah Leigh Tag for-review tag was added to gene: LAMA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.34 | LAMA2 | Sarah Leigh Classified gene: LAMA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.34 | LAMA2 | Sarah Leigh Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.34 | LAMA2 | Sarah Leigh Gene: lama2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.33 | LAMA2 | Sarah Leigh Publications for gene: LAMA2 were set to 20207543; 18406646 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.32 | LAMA2 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.24 | LAMA2 | Ian Berry reviewed gene: LAMA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.13 | LAMA2 |
Zornitza Stark 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 Added comment: 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 list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||