Ichthyosis and erythrokeratoderma
Gene: LIPN
LIPN (lipase family member N)
EnsemblGeneIds (GRCh38): ENSG00000204020
EnsemblGeneIds (GRCh37): ENSG00000204020
OMIM: 613924, Gene2Phenotype
LIPN is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000204020
EnsemblGeneIds (GRCh37): ENSG00000204020
OMIM: 613924, Gene2Phenotype
LIPN is in 7 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 1/4 sources. Reviewer recommends Red. One LOF variant reported in large consanguineous family with a late-onset form of recessive ichthyosis (PMID 21439540)Created: 8 Jun 2016, 10:24 a.m.
John McGrath (King's College London)
LIPN is an oddity - really just described in an Israeli family but the onset of the ichthyosis is late not congenital - so for me (and many others) this is an anomaly and perhaps is might disappear in the next classificationCreated: 18 Nov 2015, 2:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AR(N)CI 8; Ichthyosis, congenital, autosomal recessive 8
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ichthyosis, congenital, autosomal recessive 8, 613943
- OMIM
- 613924
- Clinvar variants
- Variants in LIPN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: LIPN was added gene: LIPN was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPN were set to 21439540 Phenotypes for gene: LIPN were set to Ichthyosis, congenital, autosomal recessive 8, 613943