Fetal hydrops
Gene: FHEnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 21 panels
1 review
Rebecca Foulger (Genomics England curator)
PMID:23137060 list Fumarase deficiency as a non-lysosomal inborn error of metabolism associated with non-immune hydrops fetalis (NIHF) (Table 3).Created: 21 Dec 2016, 11:52 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Fumarase deficiency, 606812
- Citric-acid cycle defect
- OMIM
- 136850
- Clinvar variants
- Variants in FH
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma
- Endometrial cancer pertinent cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma cancer susceptibility
- Inherited renal cancer
- Undiagnosed metabolic disorders
- Intellectual disability
- Fetal hydrops
- Mitochondrial disorders
- Fumarate hydratase-related tumour syndromes
- Fetal anomalies
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- DDG2P
- Neuroendocrine cancer pertinent cancer susceptibility
- Early onset or syndromic epilepsy
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Added New Source
Rebecca Foulger (Genomics England curator)FH was added to Fetal hydropspanel. Sources: Literature
Created
Rebecca Foulger (Genomics England curator)FH was created by rfoulger