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  2. Cutis Laxa
  3. FBLN5
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Cutis Laxa

Gene: FBLN5

Green List (high evidence)
FBLN5 (fibulin 5)
EnsemblGeneIds (GRCh38): ENSG00000140092
EnsemblGeneIds (GRCh37): ENSG00000140092
OMIM: 604580, Gene2Phenotype
FBLN5 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

>3 families reported and functional data including mouse model.

Single report of mono-allelic variant (large intragenic duplication).

Sources: Expert list
Created: 1 Jul 2020, 6:46 a.m. | Last Modified: 21 Dec 2021, 6:40 a.m.
Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IA, MIM# 219100

Publications

Created: 1 Jul 2020, 6:46 a.m.
Last Modified: 21 Dec 2021, 6:40 a.m.
Panel version: Imported from Aortopathy_Connective Tissue Disorders panel version 0.128

Details

Mode of Inheritance
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
OMIM
604580
Clinvar variants
Variants in FBLN5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fbln5 has been classified as Green List (High Evidence).

21 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBLN5 were changed from Cutis laxa, autosomal recessive, type IA MIM#219100; ?Cutis laxa, autosomal dominant 2 MIM#614434 to Cutis laxa, autosomal recessive, type IA MIM#219100; Cutis laxa, autosomal dominant 2 MIM#614434

21 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FBLN5 were set to

10 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: FBLN5 was added gene: FBLN5 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA MIM#219100; ?Cutis laxa, autosomal dominant 2 MIM#614434