Hair disorders
Gene: HEPHL1EnsemblGeneIds (GRCh38): ENSG00000181333
EnsemblGeneIds (GRCh37): ENSG00000181333
HEPHL1 is in 2 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
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: LiteratureCreated: 2 Nov 2023, 1:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormal hair, joint laxity, and developmental delay (MIM#261990)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Abnormal hair, joint laxity, and developmental delay (MIM#261990)
- Clinvar variants
- Variants in HEPHL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: hephl1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: hephl1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Naomi Baker (Victorian Clinical Genetics Services)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