Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: FIG4

Green List (high evidence)

FIG4 (FIG4 phosphoinositide 5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 14 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Cleidocranial dysplasia and related disorders gp of SD - at least 3 unrelated cases reported with Yunis-Varon. Variants also associated with Charcot-Marie-Tooth disease type 4J, 611228 and Amyotrophic lateral sclerosis 11 612577.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Yunis-Varon syndrome 216340

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FIG4; Initial rating suggestion: Green
Created: 6 Mar 2019, 11:36 a.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
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Yunis-Varon syndrome 216340
  • Amyotrophic lateral sclerosis 11 612577
  • Yunis-Varon syndrome 216340
OMIM
609390
Clinvar variants
Variants in FIG4
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Yunis-Varon syndrome 216340 for gene: FIG4

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FIG4. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

28 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

28 Jul 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for FIG4 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Jul 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

FIG4 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

28 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FIG4 were set to Amyotrophic lateral sclerosis 11 612577; Yunis-Varon syndrome 216340

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

FIG4 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FIG4 was created by sleigh