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Hair disorders v0.70 HEPHL1 Ain Roesley Marked gene: HEPHL1 as ready
Hair disorders v0.70 HEPHL1 Ain Roesley Gene: hephl1 has been classified as Red List (Low Evidence).
Hair disorders v0.70 HEPHL1 Ain Roesley Classified gene: HEPHL1 as Red List (low evidence)
Hair disorders v0.70 HEPHL1 Ain Roesley Gene: hephl1 has been classified as Red List (Low Evidence).
Hair disorders v0.69 HEPHL1 Naomi Baker gene: HEPHL1 was added
gene: HEPHL1 was added to Hair disorders. 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