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Skeletal dysplasia

Gene: LMX1B

Green List (high evidence)

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Patellar dysostoses gp of SD >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nail-patella syndrome 161200

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LMX1B; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 27 Jul 2016, 9:44 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:36 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nail-patella syndrome 161200

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nail-patella syndrome 161200
  • Nail-patella syndrome 161200
OMIM
602575
Clinvar variants
Variants in LMX1B
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Nail-patella syndrome 161200 for gene: LMX1B

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to LMX1B. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

27 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

27 Jul 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

LMX1B was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

27 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LMX1B were set to Nail-patella syndrome 161200

27 Jul 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for LMX1B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

LMX1B was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

LMX1B was added to Unexplained skeletal dysplasiapanel. Sources: