Radial dysplasia
Gene: FIG4EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 13 panels
3 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases. In biallelic form, causes Yunis-Varon syndrome; absent thumbs is a feature therefore in the differential.Created: 11 May 2017, 12:12 p.m.
Sarah Leigh (Genomics England Curator)
Amyotrophic lateral sclerosis 11 OMIM:612577 is not relevant to this panel, so bialellic mode of inheritance is appropriate.Created: 17 Aug 2021, 1:42 p.m. | Last Modified: 17 Aug 2021, 1:42 p.m.
Panel Version: 1.15
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. At least three variants reported in four variants reported Amyotrophic lateral sclerosis 11 (612577) and at least four in Yunis-Varon syndrome (216340)Created: 28 Jul 2016, 12:11 p.m.
Comment on phenotypes: Variants have also been reported in Polymicrogyria, bilateral temporooccipital 612691; Charcot-Marie-Tooth disease, type 4J 611228Created: 28 Jul 2016, 12:04 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Polymicrogyria, bilateral temporooccipital 612691; Amyotrophic lateral sclerosis 11 612577; Charcot-Marie-Tooth disease, type 4J 611228; Yunis-Varon syndrome 216340
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Other
- Phenotypes
-
- Yunis Varon syndrome OMIM:216340
- Yunis-Varon syndrome MONDO:0008995
- OMIM
- 609390
- Clinvar variants
- Variants in FIG4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb disorders
- Hereditary neuropathy
- DDG2P
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Malformations of cortical development
- Radial dysplasia
- Intellectual disability
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FIG4 were changed from Yunis-Varon syndrome, 216340; Aplastic/hypoplastic thumbs; absent thumbs to Yunis Varon syndrome OMIM:216340; Yunis-Varon syndrome MONDO:0008995
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for FIG4 were set to Yunis-Varon syndrome, 216340; Aplastic/hypoplastic thumbs; absent thumbs
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for FIG4 were set to 23623387
Upload gene information
Rebecca Foulger (Genomics England curator)FIG4 was added to Radial dysplasiapanel. Sources: Expert list
Created
Rebecca Foulger (Genomics England curator)FIG4 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)FIG4 was added to Radial dysplasiapanel. Sources: Other