Hand and foot malformations
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Yunis-Varon syndrome 216340
- Amyotrophic lateral sclerosis 11 612577
- OMIM
- 609390
- Clinvar variants
- Variants in FIG4
- Penetrance
- None
- 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
22 Sep 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FIG4 was added gene: FIG4 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list 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