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Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FIG4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Amyotrophic lateral sclerosis 11, 612577 (3) | Charcot-Marie-Tooth disease, type 4J, 611228 (3) | ?Polymicrogyria, bilateral temporooccipital, 612691 (3) | Yunis-Varon syndrome, 216340 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, type 4J, 611228
  • Yunis-Varon syndrome, 216340
  • ?Polymicrogyria, bilateral temporooccipital, 612691
  • Amyotrophic lateral sclerosis 11, 612577
OMIM
609390
Clinvar variants
Variants in FIG4
Penetrance
None
Publications
Panels with this gene