1. Panels
  2. Fetal anomalies
  3. MAP1B
Genes in panel
Prev Next

Fetal anomalies

Gene: MAP1B

Amber List (moderate evidence)
MAP1B (microtubule associated protein 1B)
EnsemblGeneIds (GRCh38): ENSG00000131711
EnsemblGeneIds (GRCh37): ENSG00000131711
OMIM: 157129, Gene2Phenotype
MAP1B is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Canham (Liverpool Women's Hospital)

I don't know

Lots of papers, but none of them very convincing and several don't seem to have patients with PVNH. Amber - not enoungh evidence of prenatal phenotype at present.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polymicrogyria; Periventricular nodular heterotopia 9, OMIM:618918

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Polymicrogyria
  • Periventricular nodular heterotopia 9, OMIM:618918
OMIM
157129
Clinvar variants
Variants in MAP1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MAP1B was added gene: MAP1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP1B were set to 33772511; 30150678; 31317654; 30214071 Phenotypes for gene: MAP1B were set to Polymicrogyria; Periventricular nodular heterotopia 9, OMIM:618918