Hypophosphataemia or rickets
Gene: FAHEnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 13 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 8 a.m. | Last Modified: 6 Dec 2024, 8 a.m.
Panel Version: 3.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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) panelsCreated: 30 Nov 2020, 10:33 a.m. | Last Modified: 30 Nov 2020, 10:33 a.m.
Panel Version: 2.14
Zornitza Stark (Australian Genomics)
Hypophosphataemic rickets is a feature of this metabolic disorder.
Sources: Expert listCreated: 8 Aug 2020, 4:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type I, MIM# 276700
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Tyrosinemia, type I, OMIM:276700, MONDO:0010161
- OMIM
- 613871
- Clinvar variants
- Variants in FAH
- Penetrance
- None
- Panels with this gene
-
- Renal tubulopathies
- Paediatric or syndromic cardiomyopathy
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Hypophosphataemia or rickets
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- DDG2P
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag for-review was removed from gene: FAH. Tag to_be_confirmed_NHSE was removed from gene: FAH.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to FAH. Source Expert Review Green was added to FAH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: FAH.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fah has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: FAH.
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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FAH were changed from Tyrosinemia, type I, MIM# 276700 to Tyrosinemia, type I, 276700
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