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Prepair 1000+

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

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon.

Multiple families reported with bi-allelic variants and functional data including mouse model. Infant/childhood onset (OMIM).

AD conditions primarily associated with adult onset (OMIM).
Created: 15 Oct 2024, 10:21 p.m. | Last Modified: 15 Oct 2024, 10:21 p.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 15 Oct 2024, 10:21 p.m.
Last Modified: 15 Oct 2024, 10:21 p.m.
Panel version: 1.420

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: FBLN5 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FBLN5 was added gene: FBLN5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA, 219100 (3)