1. Panels
  2. Fetal anomalies
  3. FIG4
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Fetal anomalies

Gene: FIG4

Green List (high evidence)
FIG4 (FIG4 phosphoinositide 5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 13 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 11:59 a.m. | Last Modified: 1 Feb 2021, 11:59 a.m.
Panel Version: 1.384
Created: 1 Feb 2021, 11:59 a.m.
Last Modified: 1 Feb 2021, 11:59 a.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Limb disorders; Radial dysplasia; Skeletal dysplasia
Created: 29 Jan 2021, 9:51 a.m. | Last Modified: 29 Jan 2021, 9:51 a.m.
Panel Version: 1.215

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Yunis-Varon syndrome; Charcot-Marie-Tooth disease, type 4J; ?Polymicrogyria, bilateral temporooccipital

Created: 29 Jan 2021, 9:51 a.m.
Last Modified: 29 Jan 2021, 9:51 a.m.
Panel version: 1.215

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J and Probable for CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME.
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Yunis-Varon syndrome, OMIM:216340
  • Yunis-Varon syndrome, MONDO:0008995
  • Charcot-Marie-Tooth disease, type 4J, OMIM:611228
  • Charcot-Marie-Tooth disease type 4J, MONDO:0012640
  • ?Polymicrogyria, bilateral temporooccipital, OMIM:612691
  • Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986
OMIM
609390
Clinvar variants
Variants in FIG4
Penetrance
None
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: FIG4.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to FIG4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FIG4 were changed from CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME; CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J to Yunis-Varon syndrome, OMIM:216340; Yunis-Varon syndrome, MONDO:0008995; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J, MONDO:0012640; ?Polymicrogyria, bilateral temporooccipital, OMIM:612691; Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: fig4 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: FIG4.

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME for gene: FIG4

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: FIG4 was added gene: FIG4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FIG4 were set to CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J