FBLN5

fibulin 5
OMIM: 604580, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green FBLN5 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cutis laxa, autosomal recessive, type IA, MIM# 219100
Green FBLN5 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IA, MIM# 219100 childhood-onset emphysema
Green FBLN5 in Mendeliome Version 1.2302	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IA, MIM#219100 Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895)
Green FBLN5 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.84	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cutis laxa, autosomal recessive, type IA, MIM# 219100 childhood-onset emphysema
Red FBLN5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Cutis laxa, autosomal recessive, type IA, MIM#219100
Green FBLN5 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.51 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes HMSN Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895
Green FBLN5 in Cutis Laxa Level 2: Dermatological disorders Version 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list GeneReviews Phenotypes Cutis laxa, autosomal recessive, type IA MIM#219100 Cutis laxa, autosomal dominant 2 MIM#614434
Green FBLN5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IA, 219100 (3)
Red FBLN5 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene BabySeq Category A gene Phenotypes Cutis laxa Age-related macular degeneration
Green FBLN5 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Cutis laxa, autosomal recessive, type IA, MIM#219100
Green FBLN5 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cutis laxa, autosomal recessive, type IA, 219100 (3)
Red FBLN5 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BabySeq Category A gene Expert Review Red Phenotypes Age-related macular degeneration Cutis laxa
Red FBLN5 in Pneumothorax Level 3: Structural lung disorders Level 2: Respiratory disorders Version 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes cutis laxa MONDO:0016175