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DDG2P

Gene: FIG4

Amber List (moderate evidence)

FIG4 (FIG4 phosphoinositide 5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable (for all listed disorders).
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228
  • CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340
OMIM
609390
Clinvar variants
Variants in FIG4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340 for gene: FIG4 Publications for gene FIG4 were changed from 17572665 to 2319578; 7496176; 23623387

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: FIG4 was added gene: FIG4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 17572665 Phenotypes for gene: FIG4 were set to CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228