Periodic fever syndromes
Gene: LPIN2Comment 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.
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.
Phenotypes for gene: LPIN2 were changed from Hereditary Periodic Fever Syndromes; Majeed syndrome, 609628 to Majeed syndrome, OMIM:609628
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for LPIN2 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene LPIN2 were set to Hereditary Periodic Fever Syndromes; Majeed syndrome, 609628
LPIN2 was added to Periodic fever syndromes and amyloidosis panel. Sources: Emory Genetics Laboratory