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  3. MAP1B
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Polymicrogyria and Schizencephaly

Gene: MAP1B

Green List (high evidence)
MAP1B (microtubule associated protein 1B)
EnsemblGeneIds (GRCh38): ENSG00000131711
EnsemblGeneIds (GRCh37): ENSG00000131711
OMIM: 157129, Gene2Phenotype
MAP1B is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 families described with intellectual disability and variable brain malformation phenotypes.
Created: 20 Nov 2019, 7:09 p.m. | Last Modified: 20 Nov 2019, 7:09 p.m.
Panel Version: 0.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Nov 2019, 7:09 p.m.
Last Modified: 20 Nov 2019, 7:09 p.m.
Panel version: 0.88

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Intellectual disability
  • seizures
  • PVNH
  • dysmorphic features
  • Periventricular nodular heterotopia 9, MIM# 618918
OMIM
157129
Clinvar variants
Variants in MAP1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAP1B were changed from Intellectual disability; seizures; PVNH; dysmorphic features to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: map1b has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features

17 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAP1B were set to

17 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAP1B was added gene: MAP1B was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MAP1B was set to Unknown