Leukodystrophy - paediatric
Gene: FIG4EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 17 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Two unrelated families with leukoencephalopathy as a feature of their conditions, and a mouse model recapitulating the phenotype.
Sources: Expert listCreated: 18 Jan 2020, 7:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4J 611228; Yunis-Varon syndrome 216340; leukoencephalopathy
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four unrelated families reported with bi-allelic variants in this gene and a leukoencephalopathy phenotype. Please note gene is associated with multiple other phenotypes including Yunis-Varon syndrome, CMT, ALS.
Sources: LiteratureCreated: 18 Dec 2019, 12:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy; peripheral neuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Literature
- Phenotypes
-
- Charcot-Marie-Tooth disease, type 4J 611228
- Yunis-Varon syndrome 216340
- leukoencephalopathy
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fig4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FIG4 was added gene: FIG4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 30740813; 29688489 Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J 611228; Yunis-Varon syndrome 216340; leukoencephalopathy Review for gene: FIG4 was set to GREEN