Inherited phaeochromocytoma and paraganglioma

Gene: FH

Green List (high evidence)

FH (fumarate hydratase)
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 21 panels

3 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Treena Cranston (Oxford)

Green List (high evidence)

Ellen Thomas (Genomics England Curator)

Comment on list classification: At least 5 families in the literature with FH causing hereditary PCC/PGL. Other FH mutations cause hereditary Leiomyomatosis and renal cell cancer with the genotype-phenotype correlation currently poorly understood.
Created: 6 Feb 2016, 5:59 p.m.

History Filter Activity

6 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Oct 2015, Gel status: 0

Set Mode of Inheritance

Treena Cranston (Oxford)

Model of inheritance for gene FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Oct 2015, Gel status: 0

Added New Source

Treena Cranston (Oxford)

FH was added to Neuro-endocrine Tumours- PCC and PGLpanel. Source: Expert Review

13 Oct 2015, Gel status: 0

Added New Source

Treena Cranston (Oxford)

FH was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Expert Review