LMBR1

limb development membrane protein 1
OMIM: 605522, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green LMBR1 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Laurin-Sandrow syndrome,135750 Triphalangeal thumb type I,174500 Triphalangeal Thumb-Polysyndactyly Syndrome
Red LMBR1 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.34	review	Not set	Sources Emory Genetics Laboratory
Green LMBR1 in Limb disorders Version 4.18 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Review Green London South East RGC GSTT Viapath Phenotypes Polydactyly Syndactyly, type IV 186200 Laurin-Sandrow syndrome,135750 Acheiropody 200500 Triphalangeal thumb type I,174500 Triphalangeal thumb, type I 174500 Laurin-Sandrow syndrome 135750 Polydactyly, preaxial type II 174500 Hypoplastic or aplastic tibia with polydactyly 188740 Triphalangeal thumb-polysyndactyly syndrome 174500 Triphalangeal Thumb-Polysyndactyly Syndrome
Green LMBR1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory 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
Green LMBR1 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Triphalangeal thumb-polysyndactyly syndrome 174500 Laurin-Sandrow syndrome 135750 Hypoplastic or aplastic tibia with polydactyly 188740 Syndactyly, type IV 186200 Triphalangeal thumb, type I 174500 Polydactyly, preaxial type II 174500 Acheiropody 200500
Green LMBR1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Syndactyly, type IV, 186200 Hypoplastic or aplastic tibia with polydactyly, 188740 Triphalangeal thumb, type I, 174500 Triphalangeal thumb-polysyndactyly syndrome, 174500 Polydactyly, preaxial type II, 174500 Laurin-Sandrow syndrome, 135750 Acheiropody, 200500