Interstitial Lung Disease
Gene: FBLN5EnsemblGeneIds (GRCh38): ENSG00000140092
EnsemblGeneIds (GRCh37): ENSG00000140092
OMIM: 604580, Gene2Phenotype
FBLN5 is in 13 panels
1 review
Suzanna Lindsey-Temple (Liverpool Hospital)
At least 8 unrelated families reported with ARCL associated childhood-onset emphysema.
Animal models.
Monoallelic ADCL - no reported lung involvement.Created: 6 Nov 2021, 3:50 a.m. | Last Modified: 6 Nov 2021, 3:50 a.m.
Panel Version: 0.183
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Autosomal recessive cutis laxa (ARCL), type 1A - childhood-onset emphysema
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cutis laxa, autosomal recessive, type IA, MIM# 219100
- childhood-onset emphysema
- OMIM
- 604580
- Clinvar variants
- Variants in FBLN5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cutis Laxa
- Pulmonary Fibrosis_Interstitial Lung Disease
- Mendeliome
- BabyScreen+ newborn screening
- Aortopathy_Connective Tissue Disorders
- Interstitial Lung Disease
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Pneumothorax
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fbln5 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FBLN5 were changed from to Cutis laxa, autosomal recessive, type IA, MIM# 219100; childhood-onset emphysema
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FBLN5 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FBLN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FBLN5 was added gene: FBLN5 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FBLN5 was set to Unknown