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Craniosynostosis

Gene: LMX1B

Amber List (moderate evidence)
LMX1B (LIM homeobox transcription factor 1 beta)
EnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 15 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single case reported with p.L203F and craniosynostosis. Supporting mouse model.
Sources: Literature
Created: 17 Sep 2020, 8:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coronal craniosynostosis

Publications

Created: 17 Sep 2020, 8:18 a.m.

Panel version: 0.142

History Filter Activity

17 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lmx1b has been classified as Amber List (Moderate Evidence).

17 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lmx1b has been classified as Amber List (Moderate Evidence).

17 Sep 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LMX1B was added gene: LMX1B was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMX1B were set to 29852132; 20643727 Phenotypes for gene: LMX1B were set to Coronal craniosynostosis Review for gene: LMX1B was set to AMBER