GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: LMBR1

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, 11:52 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

• 26749485
• 11090342

Mode of pathogenicity
Other - please provide details in the comments

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