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  3. FBLN5
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Aortopathy_Connective Tissue Disorders

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.
Sources: Expert list
Created: 1 Jul 2020, 6:46 a.m.

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.

Panel version: 0.128

History Filter Activity

1 Jul 2020, 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).

1 Jul 2020, 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).

1 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FBLN5 was added gene: FBLN5 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBLN5 were set to 3232707; 22829427; 11805835 Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA, MIM# 219100 Review for gene: FBLN5 was set to GREEN