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| Mendeliome v1.2396 | HEPHL1 |
Sangavi Sivagnanasundram changed review comment from: 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 chet variant. The variant was shown to affect ferroxidase activity result in abnormal hair phenotype. ?inborn error of iron metabolism; to: 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 |
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| Mendeliome v1.2396 | HEPHL1 |
Sangavi Sivagnanasundram changed review comment from: 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 chet variants. The variant was shown to affect ferroxidase activity result in abnormal hair phenotype. ?inborn error of iron metabolism; to: 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 chet variant. The variant was shown to affect ferroxidase activity result in abnormal hair phenotype. ?inborn error of iron metabolism |
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| Mendeliome v1.2396 | HEPHL1 | Sangavi Sivagnanasundram reviewed gene: HEPHL1: Rating: RED; Mode of pathogenicity: None; Publications: 31125343; Phenotypes: pili torti-developmental delay-neurological abnormalities syndrome MONDO:0009871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1344 | HEPHL1 | Ain Roesley Marked gene: HEPHL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1344 | HEPHL1 | Ain Roesley Gene: hephl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1344 | HEPHL1 | Ain Roesley Classified gene: HEPHL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1344 | HEPHL1 | Ain Roesley Gene: hephl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1335 | HEPHL1 |
Naomi Baker gene: HEPHL1 was added gene: HEPHL1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HEPHL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEPHL1 were set to PMID: 31125343; 31293895 Phenotypes for gene: HEPHL1 were set to Abnormal hair, joint laxity, and developmental delay (MIM#261990) Review for gene: HEPHL1 was set to RED Added comment: PMID: 31125343 - Single patient reported with biallelic variants (missense and splice) that presented with abnormal hair and early cognitive delays. Authors also created a knockout mouse, with homozygotes having short, curled whiskers while heterozygotes did not have this phenotype. PMID: 31293895 - Report of curly whiskers (cw) mouse model that has a spontaneous variant (frame shifting single base insertion) in Hephl1. Sources: Literature |
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