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Hereditary Neuropathy - complex

Gene: FAH

Green List (high evidence)
FAH (fumarylacetoacetate hydrolase)
EnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Episodic peripheral neuropathy.
Sources: NHS GMS
Created: 31 Mar 2020, 9:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinemia, type I, MIM# 276700

Created: 31 Mar 2020, 9:27 a.m.

Panel version: 0.32

History Filter Activity

12 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: FAH.

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fah has been classified as Green List (High Evidence).

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fah has been classified as Green List (High Evidence).

31 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAH was added gene: FAH was added to Hereditary Neuropathy - complex. Sources: NHS GMS Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinemia, type I, MIM# 276700 Review for gene: FAH was set to GREEN