Limb disorders
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, 1:41 p.m. | Last Modified: 17 Aug 2021, 1:41 p.m.
Panel Version: 2.51
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
- Other
- Phenotypes
-
- Yunis Varon syndrome OMIM:216340
- Yunis-Varon syndrome MONDO:0008995
- OMIM
- 609390
- Clinvar variants
- Variants in FIG4
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Intellectual disability
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- Skeletal dysplasia
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Radial dysplasia
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FIG4 were changed from Aplastic/hypoplastic thumbs; Yunis-Varon syndrome, 216340; absent thumbs to Yunis Varon syndrome OMIM:216340; Yunis-Varon syndrome MONDO:0008995
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 1
Added New Source, Set Phenotypes, Set publications
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to FIG4. Added phenotypes Aplastic/hypoplastic thumbs; Yunis-Varon syndrome, 216340; absent thumbs for gene: FIG4 Publications for gene FIG4 were changed from to 23623387
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: FIG4 was added gene: FIG4 was added to Limb disorders. Sources: Other Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome, 216340