Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.17 | LAMA2 | Louise Daugherty Mode of inheritance for gene LAMA2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | LAMA2 | Louise Daugherty reviewed gene: LAMA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | LAMA2 | Louise Daugherty Publications for gene LAMA2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | LAMA2 | Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138; Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 for gene: LAMA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | LAMA2 | Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138; Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 for gene: LAMA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | LAMA2 | Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138; Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 for gene: LAMA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | LAMA2 | Louise Daugherty Added phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 for gene: LAMA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | LAMA2 | Louise Daugherty Source Next Generation Children Project was added to LAMA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | LAMA2 |
Louise Daugherty Source Expert Review Green was added to LAMA2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | LAMA2 |
Louise Daugherty gene: LAMA2 was added gene: LAMA2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: LAMA2 was set to |