Hereditary Neuropathy_CMT - isolated
Gene: FIG4EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Charcot-Marie-Tooth disease type 4J is an autosomal recessive progressive neurologic disorder with a highly variable phenotype and onset ranging from early childhood to adulthood. Most patients have both proximal and distal asymmetric muscle weakness of the upper and lower limbs. There is significant motor dysfunction, followed by variably progressive sensory loss, which may be mild. Nerve conduction studies and nerve biopsies indicate demyelination as well as axonal loss.
At least 10 families reported, mouse model.
Note bi-allelic variants in this gene also cause Yunis-Varon syndrome and leukodystrophy, and mono-allelic variants are associated with ALS, and possibly with brain malformations.Created: 3 May 2021, 10:02 p.m. | Last Modified: 3 May 2021, 10:02 p.m.
Panel Version: 0.91
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4J, MIM# 611228; MONDO:0012640
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Charcot-Marie-Tooth disease, type 4J, MIM# 611228
- MONDO:0012640
- HMSN
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fig4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FIG4 were changed from Yunis Varon syndrome, 216340; Amyotrophic lateral sclerosis 11, 612577; Charcot Marie Tooth disease, type 4J, 611228; HMSN to Charcot-Marie-Tooth disease, type 4J, MIM# 611228; MONDO:0012640; HMSN
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FIG4 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FIG4 was added gene: FIG4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,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; Amyotrophic lateral sclerosis 11, 612577; Charcot Marie Tooth disease, type 4J, 611228; HMSN