| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Calcium and Phosphate disorders v1.23 | EHHADH | Zornitza Stark Marked gene: EHHADH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.23 | EHHADH | Zornitza Stark Gene: ehhadh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.23 | EHHADH | Zornitza Stark Classified gene: EHHADH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.23 | EHHADH | Zornitza Stark Gene: ehhadh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.10 | EHHADH |
Bryony Thompson 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 Added comment: 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 |
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| Calcium and Phosphate disorders v1.10 | EHHADH |
Bryony Thompson 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 Added comment: 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 |
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