FBN2

fibrillin 2
OMIM: 612570, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green FBN2 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Contractural arachnodactyly, congenital, MIM# 121050
Green FBN2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Contractural arachnodactyly, congenital, MIM# 121050
Red FBN2 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.52	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Contractural arachnodactyly, congenital 121050 Macular degeneration, early-onset 616118
Green FBN2 in Mendeliome Version 1.2302	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Contractural arachnodactyly, congenital 121050 Macular degeneration, early-onset 616118
Green FBN2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Phenotypes Contractural arachnodactyly, congenital 121050
Green FBN2 in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Contractural arachnodactyly, congenital MIM#121050
Green FBN2 in Fetal anomalies Version 1.313	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Contractural arachnodactyly, congenital OMIM:121050 congenital contractural arachnodactyly MONDO:0007363
Red FBN2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Contractural arachnodactyly, congenital MIM#121050