LMBR1

limb development membrane protein 1
OMIM: 605522, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green LMBR1 in Mendeliome Version 1.3499	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services 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
Green LMBR1 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.296 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Polydactyly, preaxial type II, MIM# 174500
Green LMBR1 in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.19 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Laurin-Sandrow syndrome, MIM# 135750 Tags SV/CNV
Green LMBR1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	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
Green LMBR1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acheiropody, 200500 (3)
Green LMBR1 in Fetal anomalies Version 1.465	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list 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
Green LMBR1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acheiropody, MIM #200500