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Cataracts

Gene: LMX1B

Red List (low evidence)

LMX1B (LIM homeobox transcription factor 1 beta)
EnsemblGeneIds (GRCh38): ENSG00000136944
EnsemblGeneIds (GRCh37): ENSG00000136944
OMIM: 602575, Gene2Phenotype
LMX1B is in 17 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Associated with glaucoma
Created: 14 Jun 2016, 8:27 a.m.

Phenotypes
Nail-patella syndrome

Publications

  • Bongers et al (2005) Eur j Hum Genet 13:935-946

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Demoted to red due to expert review.
Created: 14 Jun 2016, 12:38 p.m.
Is on the Manchester congenital cataracts gene panel and is a confirmed DD gene for Nail-Patella syndrome (includes a cataract phenotype).
Created: 29 Apr 2016, 12:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

History Filter Activity

14 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LMX1B were set to Bongers et al (2005) Eur j Hum Genet 13:935-946

14 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for LMX1B were set to Confirmed DD gene for Nail-patella syndrome

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for LMX1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

LMX1B was added to Cataractspanel. Sources: UKGTN