Likely inborn error of metabolism - targeted testing not possible
Gene: EHHADHComment on list classification: Single family reported with additional functional data which is sufficient evidence to rate as Amber, awaiting further evidence.Created: 4 Oct 2021, 10:37 a.m. | Last Modified: 4 Oct 2021, 10:37 a.m.
Panel Version: 2.187
PMID: 24401050 (Klootwijk et al 2014) - five-generation black family with isolated autosomal dominant Fanconi's syndrome. They found a heterozygous missense (p.E3K) mutation in EHHADH segregated with the disease. It results in a new mitochondrial targeting motif in the N-terminal portion of EHHADH. Functional studies of proximal tubular cells revealed impaired mitochondrial oxidative phosphorylation and defects in the transport of fluids and a glucose analogue across the epithelium. Further functional studies on the variant in PMID: 27160910 (Assmann et al 2016)
No other reports listed in OMIMCreated: 4 Oct 2021, 10:31 a.m. | Last Modified: 4 Oct 2021, 10:31 a.m.
Panel Version: 2.183
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Fanconi renotubular syndrome 3, OMIM:615605
Publications
Fanconi renotubular syndrome type 3.
The EHHADH gene is included in international classification of inherited metabolic disorders (ICIMD), Disorders of peroxisomal fatty acid oxidation.
IEM Nosology Group (IEMbase): Disorders of peroxisomal β-oxidation.
Sources: LiteratureCreated: 23 Jul 2021, 9 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine
Publications
Gene: ehhadh has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: EHHADH were changed from L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine to ?Fanconi renotubular syndrome 3, OMIM:615605; L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine
Publications for gene: EHHADH were set to PMID: 33340416
Mode of inheritance for gene: EHHADH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
gene: EHHADH was added gene: EHHADH was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: EHHADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EHHADH were set to PMID: 33340416 Phenotypes for gene: EHHADH were set to L-bifunctional protein deficiency; Metabolic acidosis; Increased amino acids in urine Review for gene: EHHADH was set to AMBER