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| Metal Metabolism Disorders v0.48 | HEPHL1 | Zornitza Stark Classified gene: HEPHL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.48 | HEPHL1 | Zornitza Stark Gene: hephl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.47 | HEPHL1 |
Sangavi Sivagnanasundram gene: HEPHL1 was added gene: HEPHL1 was added to Metal Metabolism Disorders. Sources: ClinGen Mode of inheritance for gene: HEPHL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEPHL1 were set to 31125343 Phenotypes for gene: HEPHL1 were set to pili torti-developmental delay-neurological abnormalities syndrome MONDO:0009871 Review for gene: HEPHL1 was set to RED Added comment: Classified as LIMITED by General Inborn Errors of Metabolism GCEP on 28/03/2025 - https://search.clinicalgenome.org/CCID:008755 Reported in a proband with biallelic variant. The variant was shown to affect ferroxidase activity result in abnormal hair phenotype. ?inborn error of iron metabolism Sources: ClinGen |
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