Radial 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

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Laurin-Sandrow syndrome represents radial aplasia but with ulnar dimelia, therefore phenotype appropriate for inclusion. Note that reported cases with this phenotype have resulted from microduplications. Spectrum of other radial ray manifestations associated with variants in this gene. Therefore included.
Created: 11 May 2017, 10:24 a.m.
Comment on mode of inheritance: Laurin-Sandrow syndrome as the relevant phenotype for this panel
Created: 11 May 2017, 10:20 a.m.

Rebecca Foulger (Genomics England curator)

Laurin-Sandrow syndrome (LSS) is caused by heterozygous mutation in an SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene.
Created: 18 Oct 2016, 1:26 p.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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Laurin-Sandrow syndrome,135750
  • Triphalangeal thumb type I,174500
  • Triphalangeal Thumb-Polysyndactyly Syndrome
OMIM
605522
Clinvar variants
Variants in LMBR1
Penetrance
Complete
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

11 May 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for LMBR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

6 Dec 2016, Gel status: 2

Upload gene information

Rebecca Foulger (Genomics England curator)

LMBR1 was added to Radial dysplasiapanel. Sources: Expert list

18 Oct 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

LMBR1 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services

13 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

LMBR1 was created by rfoulger

13 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

LMBR1 was added to Radial dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen