Malformations of cortical development
Gene: MAP1BThe 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
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 PVNHCreated: 11 Nov 2020, 1:51 p.m. | Last Modified: 11 Nov 2020, 1:51 p.m.
Panel Version: 2.15
Associated with 'Periventricular nodular heterotopia 9' in OMIM, but currently not in Gene2Phenotype.
PMID: 30150678 (2018) - Three Icelandic families with different predicted LoF variants in MAP1B, with periventricular nodular heterotopia (PVNH), decreased volume of the white matter and corpus callosum, and variable ID.
PMID: 29738522 (2018) - Five individuals from four families all with PVNH, and some with seizures, cognitive impairment, and other dysmorphic features. Only one patient had ID with a full-scale IQ of 55. Two individuals presented some learning difficulties and two had normal cognitive function.
PMID: 31317654 (2019) - One patient with a de novo MAP1B variant and PVNH, dysgenesis of corpus callosum, ID/GDD, microcephaly, short stature, mild conductive hearing loss, focal epilepsy, and dysmorphic featuresCreated: 11 Nov 2020, 1:44 p.m. | Last Modified: 11 Nov 2020, 1:44 p.m.
Panel Version: 2.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Periventricular nodular heterotopia 9, 618918
Publications
At least 5 families described with intellectual disability and variable brain malformation phenotypes.
Sources: Expert listCreated: 28 Aug 2020, 1:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Periventricular nodular heterotopia 9, MIM# 618918
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: MAP1B were changed from Periventricular nodular heterotopia 9, MIM# 618918 to Periventricular nodular heterotopia 9, OMIM:618918
Tag for-review was removed from gene: MAP1B.
Source Expert Review Green was added to MAP1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: map1b has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: MAP1B.
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