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Mendeliome

Gene: HEPHL1

Red List (low evidence)

HEPHL1 (hephaestin like 1)
EnsemblGeneIds (GRCh38): ENSG00000181333
EnsemblGeneIds (GRCh37): ENSG00000181333
HEPHL1 is in 2 panels

1 review

Naomi Baker (Victorian Clinical Genetics Services)

Red List (low evidence)

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
Created: 2 Nov 2023, 1:36 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

2 Nov 2023, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: hephl1 has been classified as Red List (Low Evidence).

2 Nov 2023, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: hephl1 has been classified as Red List (Low Evidence).

2 Nov 2023, Gel status: 0

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 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