GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FIG4

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

1 review

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, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Yunis-Varon syndrome 216340

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Yunis-Varon syndrome 216340

OMIM

609390

Clinvar variants

Variants in FIG4

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: FIG4 was added gene: FIG4 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome 216340

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: FIG4