Renal Tubulopathies and related disorders
Gene: FAH
Hypophosphataemic rickets is a feature of this metabolic disorder.
Sources: Expert listCreated: 28 Nov 2022, 6:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type I, MIM# 276700
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
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
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