Genomics England

PNPLA8

patatin like phospholipase domain containing 8

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PNPLA8-related progressive microcephaly with seizures and neurodegeneration
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Mitochondrial myopathy with lactic acidosis, OMIM:251950, mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Mitochondrial myopathy with lactic acidosis, OMIM:251950, mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825
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 ?Mitochondrial myopathy with lactic acidosis, 251950
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950
Green in Severe microcephaly R-numbers: R88 Signed-off version 9.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ?Mitochondrial myopathy with lactic acidosis, OMIM:251950, mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825