Skeletal dysplasia
Gene: LMBR1
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 LesterCreated: 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
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 deletionsCreated: 6 Mar 2019, 11:36 a.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
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
Source NHS GMS was added to LMBR1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
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
This gene has been classified as Green List (High Evidence).
Phenotypes for LMBR1 were set to
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
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
Mode of inheritance for LMBR1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
LMBR1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
LMBR1 was created by sleigh
LMBR1 was added to Unexplained skeletal dysplasiapanel. Sources: