Fetal anomalies
Gene: FIG4

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Absent thumbs are a feature of Yunis-Varon syndrome.
Sources: Expert list
Created: 23 Jul 2020, 11:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Yunis-Varon syndrome, MIM# 216340

Publications

23623387

Created: 23 Jul 2020, 11:31 p.m.

Panel version: Imported from Radial Ray Abnormalities panel version 0.61

Lauren Akesson (Royal Melbourne Hospital)

I don't know

PMID 18758830 – Ben Cheikh et al (2009) studied a large consanguineous Moroccan family in which bilateral occipital polymicrogyria segregated as an autosomal recessive trait, establishing linkage to 6q16-q22 by homozygosity mapping. Three affected individuals had epilepsy and polymicrogyria (other siblings had variable phenotypes).

PMID 24598713 – Baulac et al (2014) analysed the consanguineous Moroccan family and detected a homozygous missense variant in FIG4, which was homozygous in each of the affected siblings with polymicrogyria, heterozygous in one healthy sibling, not present in three healthy siblings, heterozygous in both parents and not tested in a further four siblings. They went on to study transfected fibroblasts from FIG4 deficient mice and examined histologically brains from FIG4-null mice which had findings that included changes “reminiscent of human cortical malformations”.

- Homozygous variants in FIG4 have also been reported in Charcot-Marie-Tooth subtype 4J (32022442), leukoencephalopathy (30740813), Yunis-Varon syndrome (23623387)
- Heterozygous variants in FIG4 have been reported in association with Parkinsonism (32268254), amyotrophic lateral sclerosis (28051077)

In the case of cortical malformations, there is only one family described with one supporting mouse model.
Created: 28 Apr 2020, 7:09 a.m. | Last Modified: 28 Apr 2020, 7:09 a.m.

Panel Version: 0.53

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
? Polymicrogyria with epilepsy MIM# 612691

Publications

PMID: 18758830
24598713

Created: 28 Apr 2020, 7:09 a.m.
Last Modified: 28 Apr 2020, 7:09 a.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.53

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Expert list

Phenotypes

Yunis-Varon syndrome, OMIM:216340
Yunis-Varon syndrome, MONDO:0008995
?Polymicrogyria, bilateral temporooccipital, OMIM:612691
Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986

OMIM

609390

Clinvar variants

Variants in FIG4

Penetrance

None

Publications

Panels with this gene