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Intellectual disability syndromic and non-syndromic

Gene: FIG4

Green List (high evidence)

FIG4 (FIG4 phosphoinositide 5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 17 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 5 families with ID as a feature of the phenotype.
Created: 27 Sep 2024, 8:36 a.m. | Last Modified: 27 Sep 2024, 8:36 a.m.
Panel Version: 0.6264

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease MONDO:0015626

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

27 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fig4 has been classified as Green List (High Evidence).

27 Sep 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FIG4 were changed from to Charcot-Marie-Tooth disease MONDO:0015626

27 Sep 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FIG4 were set to

27 Sep 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FIG4 was added gene: FIG4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FIG4 was set to Unknown