Periodic fever syndromes

Gene: LPIN2

Green List (high evidence)

LPIN2 (lipin 2)
EnsemblGeneIds (GRCh38): ENSG00000101577
EnsemblGeneIds (GRCh37): ENSG00000101577
OMIM: 605519, Gene2Phenotype
LPIN2 is in 8 panels

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: Recognised by the Royal Free Periodic Fever service as a cause of inherited fevers.
Created: 2 Feb 2017, 11:22 a.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Amber, ready for further review.
Created: 16 Jan 2017, 4:26 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed from OMIM reports and literature (PMID:15994876 and PMID:17330256).
Created: 16 Jan 2017, 4:17 p.m.
In 2 consanguineous Arab families with Majeed syndrome (MJDS; 609628) Ferguson et al. (2005, PMID:15994876) identified homozygosity for a missense mutation (S734L) and a 2-bp deletion in the LPIN2 gene, respectively. PMID:17330256 (Al-Mosawi et al., 2007) report a third consanguineous family with Majeed syndrome with a novel LPIN2 mutation (c.2327+1G>C).
Created: 16 Jan 2017, 4:16 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hereditary Periodic Fever Syndromes
  • Majeed syndrome, 609628
OMIM
605519
Clinvar variants
Variants in LPIN2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

1 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

1 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

16 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

16 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for LPIN2 was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene LPIN2 were set to Hereditary Periodic Fever Syndromes; Majeed syndrome, 609628

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LPIN2 was added to Periodic fever syndromes and amyloidosis panel. Sources: Emory Genetics Laboratory