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  3. LIPN
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Palmoplantar keratodermas

Gene: LIPN

Green List (high evidence)
LIPN (lipase family member N)
EnsemblGeneIds (GRCh38): ENSG00000204020
EnsemblGeneIds (GRCh37): ENSG00000204020
OMIM: 613924, Gene2Phenotype
LIPN is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: LIPN; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Jan 2019, 10:47 a.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive congenital ichthyosis
OMIM
613924
Clinvar variants
Variants in LIPN
Penetrance
None
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to LIPN.

28 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: LIPN was added gene: LIPN was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPN were set to Autosomal recessive congenital ichthyosis