Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: LPIN1Comment 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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoglobinuria, acute recurrent, autosomal recessive, 268200
Publications
Gene: lpin1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: LPIN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: lpin1 has been classified as Green List (High Evidence).
Source NHS GMS was added to LPIN1.
Source Yorkshire and North East GLH was added to LPIN1.
Phenotypes for gene: LPIN1 were changed from Myoglobinuria, acute recurrent, autosomal recessive, 268200 to Myoglobinuria, acute recurrent, autosomal recessive, 268200; myoglobinuria; exercise induced myopathy
Publications for gene: LPIN1 were set to 18817903
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
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