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| Skeletal dysplasia v1.244 | LMBR1 | Eleanor Williams commented on gene: LMBR1: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | LMBR1 |
Eleanor Williams 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 |
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| Skeletal dysplasia v1.147 | LMBR1 | Tracy Lester reviewed gene: LMBR1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 26749485, 11090342; 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | LMBR1 | Eleanor Williams reviewed gene: LMBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | LMBR1 |
Eleanor Williams Source NHS GMS was added to LMBR1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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