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Skeletal dysplasia

Gene: LMBR1

Green List (high evidence)

LMBR1 (limb development membrane protein 1)
EnsemblGeneIds (GRCh38): ENSG00000105983
EnsemblGeneIds (GRCh37): ENSG00000105983
OMIM: 605522, Gene2Phenotype
LMBR1 is in 5 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Limb hypoplasia-reduction defects gp of SD. Acheiropdy - >3 families reported with exonic deletions of the gene in one. Other phenotypes assocated with variants in the SHH regulatory region (ZRS) located within an intron of LMBR1 - >3 cases reported - ZRS variants associated with Limb hypoplasia-reduction defects gp of SD, polydactyly-syndactyly-triphalangism SD gp, polydactyly-syndactyly-triphalangism SD gp. Only exonic deletions of the gene have been reported. Misssense and dups in the ZRS region within intron 5 only. Do you report variants in this gene as part of your current diagnostic practice? YES - ZRS; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Acheiropody 200500; Hypoplastic or aplastic tibia with polydactyly 188740; Laurin-Sandrow syndrome 135750; Polydactyly, preaxial type II 174500; Syndactyly, type IV 186200; Triphalangeal thumb, type I 174500; Triphalangeal thumb-polysyndactyly syndrome 174500

Publications

Mode of pathogenicity
Other - please provide details in the comments

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

Eleanor Williams (Genomics England Curator)

I don't know

Reported microduplications in LMBR1 associated with Laurin-Sandrow syndrome are in the SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene. Duplications are >10kb and therefore the current pipeline should report these as CNVs within a green gene.
Created: 26 Nov 2019, 4:07 p.m. | Last Modified: 26 Nov 2019, 4:07 p.m.
Panel Version: 1.244
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: LMBR1; Initial rating suggestion: green for ZRS regulatory region and exonic deletions
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous variants reported in these phenotypes
Created: 12 Jul 2016, 9:47 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Acheiropody 200500; Hypoplastic or aplastic tibia with polydactyly 188740; Laurin-Sandrow syndrome 135750; Polydactyly, preaxial type II 174500; Syndactyly, type IV 186200; Triphalangeal thumb, type I 174500; Triphalangeal thumb-polysyndactyly syndrome 174500

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Laurin-Sandrow syndrome 135750
  • Polydactyly, preaxial type II 174500
  • Hypoplastic or aplastic tibia with polydactyly 188740
  • Triphalangeal thumb, type I 174500
  • Triphalangeal thumb-polysyndactyly syndrome 174500
  • Syndactyly, type IV 186200
  • Acheiropody 200500
OMIM
605522
Clinvar variants
Variants in LMBR1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Laurin-Sandrow syndrome 135750; Polydactyly, preaxial type II 174500; Hypoplastic or aplastic tibia with polydactyly 188740; Triphalangeal thumb, type I 174500; Triphalangeal thumb-polysyndactyly syndrome 174500; Syndactyly, type IV 186200; Acheiropody 200500 for gene: LMBR1 Publications for gene LMBR1 were changed from to 26749485; 11090342

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to LMBR1. 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

13 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LMBR1 were set to Acheiropody 200500; Hypoplastic or aplastic tibia with polydactyly 188740; Laurin-Sandrow syndrome 135750; Polydactyly, preaxial type II 174500; Syndactyly, type IV 186200; Triphalangeal thumb, type I 174500; Triphalangeal thumb-polysyndactyly syndrome 174500

12 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).

12 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LMBR1 were set to

12 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 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).

12 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LMBR1 were set to Acheiropody 200500; Hypoplastic or aplastic tibia with polydactyly 188740; Laurin-Sandrow syndrome 135750; Polydactyly, preaxial type II 174500; Syndactyly, type IV 186200; Triphalangeal thumb, type I 174500; Triphalangeal thumb-polysyndactyly syndrome 174500

12 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for LMBR1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

LMBR1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

LMBR1 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

LMBR1 was added to Unexplained skeletal dysplasiapanel. Sources: