Limb girdle muscular dystrophy

Gene: LPIN1

Green List (high evidence)

LPIN1 (lipin 1)
EnsemblGeneIds (GRCh38): ENSG00000134324
EnsemblGeneIds (GRCh37): ENSG00000134324
OMIM: 605518, Gene2Phenotype
LPIN1 is in 8 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Created: 28 Nov 2019, 4:51 p.m. | Last Modified: 28 Nov 2019, 4:51 p.m.
Panel Version: 1.143
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Created: 28 Nov 2019, 4:51 p.m. | Last Modified: 28 Nov 2019, 4:51 p.m.
Panel Version: 1.142

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

Recurrent episodes of myoglobinuria and high CK. Differential diagnosis with LGMD.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myoglobinuria; exercise induced myopathy

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive, 268200

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive, 268200
  • myoglobinuria
  • exercise induced myopathy
OMIM
605518
Clinvar variants
Variants in LPIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: lpin1 has been classified as Green List (High Evidence).

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: LPIN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: lpin1 has been classified as Green List (High Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LPIN1.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to LPIN1.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: LPIN1 were changed from Myoglobinuria, acute recurrent, autosomal recessive, 268200 to Myoglobinuria, acute recurrent, autosomal recessive, 268200; myoglobinuria; exercise induced myopathy

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: LPIN1 were set to 18817903

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene LPIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200 for gene: LPIN1 Publications for gene LPIN1 were changed from to 18817903

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: LPIN1 was added gene: LPIN1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: LPIN1 was set to