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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
Metal Metabolism Disorders v0.9 HEPH Zornitza Stark Marked gene: HEPH as ready
Metal Metabolism Disorders v0.9 HEPH Zornitza Stark Gene: heph has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.9 HEPH Zornitza Stark Phenotypes for gene: HEPH were changed from to Iron metabolism defect
Metal Metabolism Disorders v0.8 HEPH Zornitza Stark Publications for gene: HEPH were set to
Metal Metabolism Disorders v0.7 HEPH Zornitza Stark Classified gene: HEPH as Red List (low evidence)
Metal Metabolism Disorders v0.7 HEPH Zornitza Stark Gene: heph has been classified as Red List (Low Evidence).
Metal Metabolism Disorders v0.6 HEPH Zornitza Stark reviewed gene: HEPH: Rating: RED; Mode of pathogenicity: None; Publications: 30182051, 30060949; Phenotypes: Iron metabolism defect; Mode of inheritance: None
Metal Metabolism Disorders v0.0 HEPH Zornitza Stark gene: HEPH was added
gene: HEPH was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service
Mode of inheritance for gene: HEPH was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females