LMX1B

LIM homeobox transcription factor 1 beta
OMIM: 602575, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red LMX1B in Haematuria_Alport Level 2: Renal and urinary tract disorders Version 1.1 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green LMX1B in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Nail-patella syndrome, MIM# 161200, MONDO:0008061
Amber LMX1B in Cataract Level 2: Ophthalmological disorders Version 0.366	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Nail-patella syndrome, MIM# 161200
Amber LMX1B in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Coronal craniosynostosis
Green LMX1B in Glaucoma congenital Level 2: Ophthalmological disorders Version 1.9	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nail-patella syndrome, MIM# 161200
Green LMX1B in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nail-patella syndrome (MIM#161200), MONDO:0008061 LMX1B-related nephropathy Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Green LMX1B in Proteinuria Level 2: Renal and urinary tract disorders Version 0.225 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nail-patella syndrome (MIM#161200), MONDO:0008061 LMX1B-related nephropathy Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Red LMX1B in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Focal segmental glomerulosclerosis 10 MIM#256020 Nail-patella syndrome MIM#161200
Green LMX1B in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Nail-patella syndrome (MIM#161200), MONDO:0008061
Green LMX1B in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Nail-patella syndrome 161200 Nail-patella syndrome 161200
Green LMX1B in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Nail patella syndrome
Red LMX1B in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Nail-patella syndrome, 161200
Green LMX1B in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Nail-patella syndrome, MIM# 161200, MONDO:0008061
Red LMX1B in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Nail-patella syndrome, MIM# 161200, MONDO:0008061