LPIN2

lipin 2
OMIM: 605519, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green LPIN2 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Majeed syndrome, MIM# 609628
  • Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia

Green LPIN2 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Majeed syndrome, MIM# 609628
  • Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia

Green LPIN2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628

Green LPIN2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Majeed syndrome, 609628 (3)

Red LPIN2 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Majeed syndrome

Green LPIN2 in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 review 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

Green LPIN2 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Majeed syndrome MIM#609628

Red LPIN2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Majeed syndrome