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  2. Calcium and Phosphate disorders
  3. EHHADH
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Calcium and Phosphate disorders

Gene: EHHADH

Green List (high evidence)
EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000113790
EnsemblGeneIds (GRCh37): ENSG00000113790
OMIM: 607037, Gene2Phenotype
EHHADH is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Now 3 different variants from 4 families/cases were reported with consistent phenotypes. Assessed as Limited by ClinGen in March 2023. However, this assessment doesn't include: PMID: 35738466, 38310177; https://clinmedjournals.org/articles/jcnrc/journal-of-clinical-nephrology-and-renal-care-jcnrc-3-027.pdf
Additional info:
PMID: 35738466 - 1 family (proband and mother) with missense (c.385C>G, p.Leu129Val) with hypophosphataemic rickets and renal tubular dysfunction
PMID: 38310177 - case with a diagnosis of Fanconi renotubular syndrome with a whole gene deletion. Hypophosphataemic rickets was part of the clinical presentation
Sources: Literature
Created: 1 Apr 2024, 1:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fanconi renotubular syndrome 3 MONDO:0014275

Publications

Created: 1 Apr 2024, 1:54 a.m.

Panel version: 1.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fanconi renotubular syndrome 3 MONDO:0014275
OMIM
607037
Clinvar variants
Variants in EHHADH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ehhadh has been classified as Green List (High Evidence).

1 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ehhadh has been classified as Green List (High Evidence).

1 Apr 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EHHADH was added gene: EHHADH was added to Calcium and Phosphate disorders. Sources: Literature Mode of inheritance for gene: EHHADH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EHHADH were set to 24401050; 35738466; 38310177 Phenotypes for gene: EHHADH were set to Fanconi renotubular syndrome 3 MONDO:0014275 Review for gene: EHHADH was set to GREEN