Skeletal dysplasia
Gene: LMBR1EnsemblGeneIds (GRCh38): ENSG00000105983
EnsemblGeneIds (GRCh37): ENSG00000105983
OMIM: 605522, Gene2Phenotype
LMBR1 is in 7 panels
1 review
Alison Yeung (Victorian Clinical Genetics Services)
Variants are associated with multiple types of limb anomalies.
Note that the 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.Created: 9 May 2022, 12:04 a.m. | Last Modified: 9 May 2022, 12:04 a.m.
Panel Version: 0.13930
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Laurin-Sandrow syndrome, MIM# 135750; Polydactyly, preaxial type II 174500; Triphalangeal thumb, type I, MIM# 174500; Syndactyly, type IV, MIM# 186200; Acheiropody, MIM# 200500; Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500; Hypoplastic or aplastic tibia with polydactyly, MIM# 188740
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Laurin-Sandrow syndrome 135750
- Polydactyly, preaxial type II 174500
- Triphalangeal thumb, type I 174500
- Syndactyly, type IV 186200
- Acheiropody 200500
- Triphalangeal thumb-polysyndactyly syndrome 174500
- Hypoplastic or aplastic tibia with polydactyly 188740
- OMIM
- 605522
- Clinvar variants
- Variants in LMBR1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LMBR1 was added gene: LMBR1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: LMBR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LMBR1 were set to 11090342; 26749485 Phenotypes for gene: LMBR1 were set to Laurin-Sandrow syndrome 135750; Polydactyly, preaxial type II 174500; Triphalangeal thumb, type I 174500; Syndactyly, type IV 186200; Acheiropody 200500; Triphalangeal thumb-polysyndactyly syndrome 174500; Hypoplastic or aplastic tibia with polydactyly 188740