Radial dysplasia

Gene: FIG4

Green List (high evidence)

FIG4 (FIG4 phosphoinositide 5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 10 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)

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 611228
Created: 28 Jul 2016, 12:04 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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, 216340
  • Aplastic/hypoplastic thumbs
  • absent thumbs
OMIM
609390
Clinvar variants
Variants in FIG4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for FIG4 were set to Yunis-Varon syndrome, 216340; Aplastic/hypoplastic thumbs; absent thumbs

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 0

Set publications

Helen Brittain (Genomics England Curator)

Publications for FIG4 were set to 23623387

6 Dec 2016, Gel status: 0

Upload gene information

Rebecca Foulger (Genomics England curator)

FIG4 was added to Radial dysplasiapanel. Sources: Expert list

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

FIG4 was created by rfoulger

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

FIG4 was added to Radial dysplasiapanel. Sources: Other