Paraganglioma_phaeochromocytoma
Gene: FHEnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 18 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition.
Sources: Expert list, Expert ReviewCreated: 18 Sep 2024, 9:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyomatosis and renal cell cancer, MIM#150800
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Paraganglioma, MONDO:0000448
- Pheochromocytoma, MONDO:0008233
- Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
- Leiomyomatosis and renal cell cancer, MIM#150800
- OMIM
- 136850
- Clinvar variants
- Variants in FH
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fh has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: fh has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: FH was added gene: FH was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FH were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyomatosis and renal cell cancer, MIM#150800 Review for gene: FH was set to GREEN