Renal Tubulopathies and related disorders
Gene: EHHADH
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 presentationCreated: 1 Apr 2024, 1:51 a.m. | Last Modified: 1 Apr 2024, 1:51 a.m.
Panel Version: 1.9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fanconi renotubular syndrome 3 MONDO:0014275
Publications
https://clinmedjournals.org/articles/jcnrc/journal-of-clinical-nephrology-and-renal-care-jcnrc-3-027.pdf
Second case report, same variant, de novo.
Also, experimental evidence. Assessed as MODERATE by ClinGen.Created: 3 Aug 2022, 9:38 p.m. | Last Modified: 3 Aug 2022, 9:38 p.m.
Panel Version: 0.56
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fanconi renotubular syndrome 3, MIM#615605
Only one family reported with some functional evidence.Created: 9 Jan 2020, 4:56 a.m. | Last Modified: 9 Jan 2020, 4:56 a.m.
Panel Version: 0.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Fanconi renotubular syndrome 3; OMIM#615605
Publications
Gene: ehhadh has been classified as Green List (High Evidence).
Publications for gene: EHHADH were set to 24401050
Gene: ehhadh has been classified as Green List (High Evidence).
gene: EHHADH was added gene: EHHADH was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,KidGen_Tubulopathies v38.1.0 Mode of inheritance for gene: EHHADH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EHHADH were set to 24401050 Phenotypes for gene: EHHADH were set to Fanconi renotubular syndrome 3, MIM#615605