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  3. FBLN1
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Hand and foot malformations

Gene: FBLN1

Red List (low evidence)
FBLN1 (fibulin 1)
EnsemblGeneIds (GRCh38): ENSG00000077942
EnsemblGeneIds (GRCh37): ENSG00000077942
OMIM: 135820, Gene2Phenotype
FBLN1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Also note single report of homozygous missense in a family with syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy.
Created: 21 Dec 2020, 5:51 a.m. | Last Modified: 21 Dec 2020, 5:51 a.m.
Panel Version: 0.5743

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180

Publications

Created: 21 Dec 2020, 5:51 a.m.
Last Modified: 21 Dec 2020, 5:51 a.m.
Panel version: Imported from Mendeliome panel version 0.5743

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

Single association to disease published in literature - reciprocal translocation region t(12;22)(p11.2;q13.3) found in the family. The breakpoint was located in the intron between the last 2 exons of the FBLN1-D splice variant isoform (exons 19-20).

Additional pathogenic missense in ClinVar, but a research finding and inherited
Created: 21 Dec 2020, 1:21 a.m. | Last Modified: 21 Dec 2020, 1:21 a.m.
Panel Version: 0.5736

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

Phenotypes
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses MIM#608180

Publications

Created: 21 Dec 2020, 1:21 a.m.
Last Modified: 21 Dec 2020, 1:21 a.m.
Panel version: Imported from Mendeliome panel version 0.5736

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180
OMIM
135820
Clinvar variants
Variants in FBLN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FBLN1 were set to

22 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fbln1 has been classified as Red List (Low Evidence).

22 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FBLN1 was added gene: FBLN1 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: FBLN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FBLN1 were set to Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180