Skeletal Dysplasia_Fetal
Gene: FIG4
FIG4 (FIG4 phosphoinositide 5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 17 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Biallelic FIG4 variants are associated with an allelic disorder - Yunis-Varon syndrome - phenotypic skeletal dysplasia features include severe prenatal growth restriction, absent halluces and congenital fractures.
Sources: LiteratureCreated: 30 Oct 2022, 11:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yunis-Varon syndrome - MIM#216340
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Yunis-Varon syndrome - MIM#216340
- OMIM
- 609390
- Clinvar variants
- Variants in FIG4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Genetic Epilepsy
- Hand and foot malformations
- Radial Ray Abnormalities
- Motor Neurone Disease
- Incidentalome
- Early-onset Dementia
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Skeletal Dysplasia_Fetal
- Mendeliome
- Polymicrogyria and Schizencephaly
- Callosome
History Filter Activity
3 Nov 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fig4 has been classified as Green List (High Evidence).
3 Nov 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fig4 has been classified as Green List (High Evidence).
30 Oct 2022, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: FIG4 was added gene: FIG4 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 31094135; 24088667; 23623387 Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome - MIM#216340 Review for gene: FIG4 was set to GREEN