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  3. FBLN5
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Hereditary Neuropathy_CMT - isolated

Gene: FBLN5

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cutis laxa: >3 families reported with bi-allelic variants and functional data including mouse model. Single individual reported in 2003 with mono-allelic disease (large intragenic duplication).
Created: 21 Dec 2021, 3:59 a.m. | Last Modified: 21 Dec 2021, 3:59 a.m.
Panel Version: 0.10338

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IA, MIM#219100; Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895)

Publications

Created: 21 Dec 2021, 3:59 a.m.
Last Modified: 21 Dec 2021, 3:59 a.m.
Panel version: Imported from Mendeliome panel version 0.10338

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32757322
- 38 individuals from 19 families
- all missense, R373C, D329V and R331H
- some carriers were subjectively healthy although pes cavus, diminished or absent deep tendon reflexesor NCV studies indicate peripheral neuropathy

PMID: 31945625
- 1 family with 2 affecteds, R373C
- 1 obligate carrier presented no symptoms

PMID: 28332470
- 3 affecteds in 1 family with R373C
Created: 21 Jan 2021, 9:55 p.m. | Last Modified: 21 Jan 2021, 9:55 p.m.
Panel Version: 0.63

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Charcot-Marie-Tooth 1; Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895)

Publications

Created: 21 Jan 2021, 9:55 p.m.
Last Modified: 21 Jan 2021, 9:55 p.m.
Panel version: 0.63

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • HMSN
  • Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895
OMIM
604580
Clinvar variants
Variants in FBLN5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 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 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FBLN5 were set to

13 Jan 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 Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBLN5 were set to HMSN; Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895