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  2. Renal Tubulopathies and related disorders
  3. FAH
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Renal Tubulopathies and related disorders

Gene: FAH

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

3 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Hypophosphataemic rickets is a feature of this metabolic disorder.
Sources: Expert list
Created: 28 Nov 2022, 6:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinemia, type I, MIM# 276700

Created: 28 Nov 2022, 6:13 a.m.

Panel version: Imported from Calcium and Phosphate disorders panel version 0.54

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established metabolic condition. Usually detected by newborn screening. In untreated individuals severe liver disease occurs in infancy. Other signs in untreated children include renal disease, rickets, hepatocellular carcinoma, and/or neurologic crises (including peripheral neuropathy). Death in untreated children usually occurs before 10 years.
DEFINITIVE gene-disease validity assessed by the ClinGen Aminoacidopathy expert panel - Classification - 06/29/2020.
Created: 20 Apr 2022, 12:39 a.m. | Last Modified: 20 Apr 2022, 12:39 a.m.
Panel Version: 0.13081

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinemia type I MONDO:0010161

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Apr 2022, 12:39 a.m.
Last Modified: 20 Apr 2022, 12:39 a.m.
Panel version: Imported from Metabolic renal disease panel version Imported from Mendeliome panel version 0.13081

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hypophosphataemic rickets is a feature of this metabolic disorder.
Created: 8 Aug 2020, 4:46 a.m. | Last Modified: 8 Aug 2020, 4:46 a.m.
Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinemia, type I, MIM# 276700

Created: 8 Aug 2020, 4:46 a.m.
Last Modified: 8 Aug 2020, 4:46 a.m.
Panel version: Imported from Calcium and Phosphate disorders panel version Imported from Hypophosphataemic Rickets panel version 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Tyrosinemia type I MONDO:0010161
OMIM
613871
Clinvar variants
Variants in FAH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAH was added gene: FAH was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 8318997; 8364576; 8253378; 1401056; 25681080 Phenotypes for gene: FAH were set to Tyrosinemia type I MONDO:0010161