Hypophosphataemia or rickets

Gene: FAH

Amber List (moderate evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: This gene is associated with an appropriate phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association.

FAH causes type I tyrosinemia and hypophosphataemic rickets is a feature of chronic disease, but patients present with liver phenotypes at the beginning before developing hypophosphataemic rickets. After consultation with the Genomics England Clinical Team, I have given this gene an Amber gene rating and tagged with "for-review" so that GMS experts can consider this gene in the scope of testing for the next iteration.

This gene is already Green on Undiagnosed metabolic disorders (v1.431) and Inborn errors of metabolism (v2.33) panels
Created: 30 Nov 2020, 10:33 a.m. | Last Modified: 30 Nov 2020, 10:33 a.m.
Panel Version: 2.14

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Hypophosphataemic rickets is a feature of this metabolic disorder.
Sources: Expert list
Created: 8 Aug 2020, 4:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinemia, type I, MIM# 276700

History Filter Activity

30 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fah has been classified as Amber List (Moderate Evidence).

30 Nov 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: FAH.

30 Nov 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FAH were changed from Tyrosinemia, type I, 276700 to Tyrosinemia, type I, OMIM:276700, MONDO:0010161

13 Oct 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FAH were changed from Tyrosinemia, type I, MIM# 276700 to Tyrosinemia, type I, 276700

8 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: FAH was added gene: FAH was added to Hypophosphataemia or rickets. Sources: Expert list 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