1. Panels
  2. Fetal anomalies
  3. LIPN
Genes in panel
Prev Next

Fetal anomalies

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

5 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

Red rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Red List (low evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
New reference has 1 case presenting with Ichthyosis, ectropion, eclabium, dysmorphic faces, hand anomalies. Not enough evidence to upgrade. Keep as red
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 8

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Chandler (North Thames GLH)

Red List (low evidence)

Single extended consanguineous family. Single variant. Red on Icthyosis panels and also late onset.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 8, MIM#613943

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for ICHTHYOSIS, LAMELLAR, 4
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 8
  • Ichthyosis, congenital, autosomal recessive 8, OMIM:613943
OMIM
613924
Clinvar variants
Variants in LIPN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 1

Set Phenotypes, Set publications

Arina Puzriakova (Genomics England Curator)

Added phenotypes Ichthyosis, congenital, autosomal recessive 8 for gene: LIPN Publications for gene: LIPN were updated from 21439540 to 21439540; 39891418

20 Feb 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: LIPN were changed from ICHTHYOSIS, LAMELLAR, 4; Ichthyosis, congenital, autosomal recessive 8, OMIM:613943 to Ichthyosis, congenital, autosomal recessive 8, OMIM:613943

20 Feb 2025, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to LIPN. Source Expert Review Red was added to LIPN. Added phenotypes Ichthyosis, congenital, autosomal recessive 8, OMIM:613943 for gene: LIPN Publications for gene: LIPN were updated from to 21439540 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: LIPN was added gene: LIPN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4