Fetal hydrops

Gene: FH

Red List (low evidence)

FH (fumarate hydratase)
EnsemblGeneIds (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.

History Filter Activity

21 Dec 2016, Gel status: 0

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.

21 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

FH was added to Fetal hydropspanel. Sources: Literature

21 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

FH was created by rfoulger