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  3. LIPN
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Ichthyosis

Gene: LIPN

Red List (low evidence)
LIPN (lipase family member N)
EnsemblGeneIds (GRCh38): ENSG00000204020
EnsemblGeneIds (GRCh37): ENSG00000204020
OMIM: 613924, Gene2Phenotype
LIPN is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single extended consanguineous family reported in 2011.
Created: 31 Jan 2020, 9:52 p.m. | Last Modified: 31 Jan 2020, 9:52 p.m.
Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 31 Jan 2020, 9:52 p.m.
Last Modified: 31 Jan 2020, 9:52 p.m.
Panel version: 0.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 8, MIM# 613943
OMIM
613924
Clinvar variants
Variants in LIPN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LIPN were changed from to Ichthyosis, congenital, autosomal recessive 8, MIM# 613943

31 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LIPN were set to

31 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LIPN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

31 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LIPN was added gene: LIPN was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIPN was set to Unknown