Hereditary neuropathy or pain disorder
Gene: FAHEnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 13 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
FAH variants have been associated with Tyrosinemia, type I (OMIM:276700) and as definitive G2P gene for the same condition. PMID: 33598652 reports eight FAH variants in 25 patients with Tyrosinemia, type I, which is known to include neuropathy as a phenotypic feature.Created: 5 Nov 2024, 1:23 p.m. | Last Modified: 5 Nov 2024, 1:23 p.m.
Panel Version: 6.90
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Louise Daugherty (Genomics England Curator)
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype: Tyrosinemia, acute episodes of neuropathy similar to AIPCreated: 6 Dec 2019, 7:59 p.m. | Last Modified: 6 Dec 2019, 7:59 p.m.
Panel Version: 0.53
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.Created: 6 Dec 2019, 7:58 p.m. | Last Modified: 6 Dec 2019, 7:58 p.m.
Panel Version: 0.53
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Alexander Rossor (UCL Institute of Neurology)
Complex phneotypes now included in R78, reference of 25 patients inlcudedCreated: 20 Oct 2024, 9:48 a.m. | Last Modified: 20 Oct 2024, 9:48 a.m.
Panel Version: 5.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
- Phenotypes
-
- Tyrosinemia, type I, OMIM:276700
- tyrosinemia type I, MONDO:0010161
- OMIM
- 613871
- Clinvar variants
- Variants in FAH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Neonatal cholestasis
- 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
- Renal tubulopathies
- Fetal anomalies
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: FAH. Tag Q3_24_NHS_review was removed from gene: FAH.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to FAH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: FAH. Tag Q3_24_NHS_review tag was added to gene: FAH.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FAH were changed from Tyrosinemia, type I, OMIM:276700 to Tyrosinemia, type I, OMIM:276700; tyrosinemia type I, MONDO:0010161
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FAH were changed from Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP; Tyrosinemia, type I, 276700 to Tyrosinemia, type I, OMIM:276700
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FAH were set to
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: fah has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FAH was added gene: FAH was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Infantile or adolescent onset liver disease, renal tubular dysfunction and hypophosphatemic rickets. Acute episodes of neuropathy similar to AIP; Tyrosinemia, type I, 276700