FBLN5

fibulin 5
OMIM: 604580, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red FBLN5 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Pulmonary Disease
Red FBLN5 in Pneumothorax - familial Level 3: Structural lung disorders Level 2: Respiratory disorders Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Cutis laxa
Amber FBLN5 in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Cutis laxa, autosomal dominant 2, OMIM:614434 Cutis laxa, autosomal recessive, type IA, OMIM:219100
Green FBLN5 in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH South West GLH Phenotypes ?Cutis laxa, autosomal dominant 2, OMIM:614434 Cutis laxa, autosomal recessive, type IA, OMIM:219100
Green FBLN5 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.127	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green South West GLH Expert list Phenotypes ?Cutis laxa, autosomal dominant 2, OMIM:614434 Cutis laxa, autosomal recessive, type IA, OMIM:219100
Green FBLN5 in Ehlers Danlos syndrome with a likely monogenic cause Level 3: Connective tissues disorders Level 2: Rheumatological disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes ?Cutis laxa, autosomal dominant 2, OMIM:614434 Cutis laxa, autosomal recessive, type IA, OMIM:219100
Green FBLN5 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes ?Cutis laxa, autosomal dominant 2, OMIM:614434 Cutis laxa, autosomal recessive, type IA, OMIM:219100
Green FBLN5 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Expert Review Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1H, OMIM:619764 Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
Red FBLN5 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services
Red FBLN5 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Phenotypes Macular degeneration, age-related, 3, OMIM:608895 Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
Green FBLN5 in Hereditary neuropathy or pain disorder Version 4.11 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review London North GLH NHS GMS NHS GMS London North GLH Phenotypes Charcot-Marie-Tooth disease, demyelinating, type 1H, OMIM:619764 Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
Green FBLN5 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 Macular degeneration, age-related, 3, 608895 Cutis laxa, autosomal recessive, type IA, 219100 Neuropathy, hereditary, with or without age-related macular degeneration, 608895 ?Cutis laxa, autosomal dominant 2, 614434