| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Malformations of cortical development v2.134 | MAP1B | Eleanor Williams Phenotypes for gene: MAP1B were changed from Periventricular nodular heterotopia 9, MIM# 618918 to Periventricular nodular heterotopia 9, OMIM:618918 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.133 | MAP1B | Eleanor Williams Tag for-review was removed from gene: MAP1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.131 | MAP1B | Sarah Leigh commented on gene: MAP1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.130 | MAP1B |
Eleanor Williams Source Expert Review Green was added to MAP1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.15 | MAP1B | Arina Puzriakova Classified gene: MAP1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.15 | MAP1B | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update (added 'for-review' tag). Multiple unrelated families with different variants in the MAP1B gene and brain malformations, particularly PVNH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.15 | MAP1B | Arina Puzriakova Gene: map1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.14 | MAP1B | Arina Puzriakova Tag for-review tag was added to gene: MAP1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.14 | MAP1B | Arina Puzriakova reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30150678, 29738522, 31317654; Phenotypes: Periventricular nodular heterotopia 9, 618918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v2.13 | MAP1B |
Zornitza Stark gene: MAP1B was added gene: MAP1B was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP1B were set to 31317654; 30150678; 30214071 Phenotypes for gene: MAP1B were set to Periventricular nodular heterotopia 9, MIM# 618918 Review for gene: MAP1B was set to GREEN gene: MAP1B was marked as current diagnostic Added comment: At least 5 families described with intellectual disability and variable brain malformation phenotypes. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||