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Red cell disorders

Gene: LPIN2

Green List (high evidence)
LPIN2 (lipin 2)
EnsemblGeneIds (GRCh38): ENSG00000101577
EnsemblGeneIds (GRCh37): ENSG00000101577
OMIM: 605519, Gene2Phenotype
LPIN2 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Majeed syndrome is a multi-system inflammatory disorder that presents with chronic multifocal osteomyelitis, congenital dyserythropoietic anaemia, with or without a neutrophilic dermatosis. More than 10 unrelated families reported in the literature.
Created: 10 Sep 2021, 6:01 a.m. | Last Modified: 10 Sep 2021, 6:01 a.m.
Panel Version: 0.94

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Majeed syndrome, MIM# 609628; Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia

Publications

Created: 10 Sep 2021, 6:01 a.m.
Last Modified: 10 Sep 2021, 6:01 a.m.
Panel version: 0.94

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Majeed syndrome, MIM# 609628
  • Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia
OMIM
605519
Clinvar variants
Variants in LPIN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lpin2 has been classified as Green List (High Evidence).

10 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LPIN2 were changed from Congenital dyserythropoietic anemia; Microcytic anemia; Majeed syndrome, 609628; 609628 Microcytic anemia; CDA; Majeed syndrome; 609628 Majeed syndrome to Majeed syndrome, MIM# 609628; Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia

10 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LPIN2 were set to 17330256; 15994876

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Congenital dyserythropoietic anemia; Microcytic anemia; Majeed syndrome, 609628; 609628 Microcytic anemia; CDA; Majeed syndrome; 609628 Majeed syndrome for gene: LPIN2 Publications for gene LPIN2 were updated from 15994876; 17330256 to 17330256; 15994876

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LPIN2 was added gene: LPIN2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPIN2 were set to 15994876; 17330256 Phenotypes for gene: LPIN2 were set to Majeed syndrome; Congenital dyserythropoietic anemia; Majeed syndrome, 609628; 609628 Majeed syndrome; 609628 Microcytic anemia; CDA; Microcytic anemia