Periodic fever syndromes
Gene: LPIN2EnsemblGeneIds (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
-
- Majeed syndrome, OMIM:609628
- OMIM
- 605519
- Clinvar variants
- Variants in LPIN2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LPIN2 were changed from Hereditary Periodic Fever Syndromes; Majeed syndrome, 609628 to Majeed syndrome, OMIM:609628
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for LPIN2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene LPIN2 were set to Hereditary Periodic Fever Syndromes; Majeed syndrome, 609628
Added New Source
Ellen McDonagh (Genomics England Curator)LPIN2 was added to Periodic fever syndromes and amyloidosis panel. Sources: Emory Genetics Laboratory