Malformations of cortical development
Gene: MAP1BEnsemblGeneIds (GRCh38): ENSG00000131711
EnsemblGeneIds (GRCh37): ENSG00000131711
OMIM: 157129, Gene2Phenotype
MAP1B is in 4 panels
3 reviews
Sarah Leigh (Genomics England Curator)
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
Arina Puzriakova (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Periventricular nodular heterotopia 9, OMIM:618918
- OMIM
- 157129
- Clinvar variants
- Variants in MAP1B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: MAP1B were changed from Periventricular nodular heterotopia 9, MIM# 618918 to Periventricular nodular heterotopia 9, OMIM:618918
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: MAP1B.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to MAP1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: map1b has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: MAP1B.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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