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  2. Autosomal recessive congenital ichthyosis
  3. LIPN
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Autosomal recessive congenital ichthyosis

Gene: LIPN

Red List (low evidence)
LIPN (lipase family member N)
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.
Created: 8 Jun 2016, 10:24 a.m.

Panel version: 0.18

John McGrath (King's College London)

Red List (low evidence)

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 classification
Created: 18 Nov 2015, 2:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AR(N)CI 8; Ichthyosis, congenital, autosomal recessive 8

Created: 18 Nov 2015, 2:50 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 8, 613943
OMIM
613924
Clinvar variants
Variants in LIPN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Jun 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for LIPN were set to 21439540

26 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LIPN was added to Autosomal recessive congenital ichthyosispanel. Sources: Radboud University Medical Center, Nijmegen

26 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LIPN was created by ellenmcdonagh