Genomics England

lipin 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myoglobinuria, acute recurrent, autosomal recessive, OMIM:268200
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myoglobinuria, acute recurrent, autosomal recessive
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 6.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myoglobinuria, acute recurrent, autosomal recessive, 268200, myoglobinuria, exercise induced myopathy
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myoglobinuria, acute recurrent, autosomal recessive 268200