Cerebral Palsy
Gene: FH
FH (fumarate hydratase)
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 18 panels
1 review
Luisa Weiss (University of Adelaide)
Two patients from a large CP cohort with biallelic (compound heterozygous) mutations in FH. Note that there is a recurrent mutation (NM_000143:c.1429_1430insAAA,p.K477delinsKK) which was already described in a compound heterozygous state in two sister with an attenuated form of fumarase deficiency and slowly progressive movement disorder (PMID:27541980).
One other case report of a girl with a previous diagnosis of cerebral palsy, nonprogressive
psychomotor retardation, and hypotonia and reduced fibroblast activity of FH to 10% and parental fibroblast activity of FH in the heterozygote range. No genetic testing had been performed on this patient.
Sources: LiteratureCreated: 29 May 2023, 5:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fumarase deficiency MIM#606812
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fumarase deficiency MIM#606812
- OMIM
- 136850
- Clinvar variants
- Variants in FH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Kidney Cancer
- Prepair 1000+
- Liver Failure_Paediatric
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Paraganglioma_phaeochromocytoma
- Facial papules
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
30 May 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fh has been classified as Green List (High Evidence).
30 May 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fh has been classified as Green List (High Evidence).
29 May 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: FH was added gene: FH was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FH were set to 33528536; 27541980; 1432428 Phenotypes for gene: FH were set to Fumarase deficiency MIM#606812 Review for gene: FH was set to GREEN