Radial dysplasia
Gene: LMBR1Reported 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, 4:06 p.m. | Last Modified: 26 Nov 2019, 4:06 p.m.
Panel Version: 1.6
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 panelCreated: 11 May 2017, 10:20 a.m.
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.
Comment when marking as ready: Numerous variants reported in these phenotypesCreated: 12 Jul 2016, 9:47 a.m.
Tier 2Created: 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
Mode of inheritance for gene: LMBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for LMBR1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
LMBR1 was added to Radial dysplasiapanel. Sources: Expert list
LMBR1 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services
LMBR1 was created by rfoulger
LMBR1 was added to Radial dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen