Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

PABPN1
Poly(A) binding protein, nuclear 1



14q11.2-q13
* Oculopharyngeal muscular dystorphy - OPMD (5.15)

PDK3
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



Xp22.11
* Charcot-Marie-Tooth neuropathy X-linked 6 - (14.35)

PDYN
prodynorphin



20p13-p12-3
* Spinocerebellar ataxia 23 - SCA23 (13.21)

PEX7
Peroxisomal biogenesis factor 7



6q21-q22
* Refsum disease, adult - RD (13.67)

PFKM
Phosphofructokinase, muscle



12q13.3
* Glycogen storage disease VII - PFKM (9.5)

PFN1
Profilin 1



17p13.2
* Amyotrophic lateral sclerosis 18 - ALS18 (12.56)

PGAM2
Phosphoglycerate mutase 2 (muscle)



7p13-p12
* Glycogen storage disease X - GSD10 (9.13)
* Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.13)

PGK1
Phosphoglycerate kinase 1



Xq13
* posphoglycerate kinase deficiency - (9.12)

PGM1
Phosphoglucomutase 1



1p31
* Glycogen storage disease XIV - GSD14 (9.7)

PHKA1
Phosphorylase b kinase, alpha submit



Xq13
* glycogen storage disease, type IXD - GSD9D (9.6)

PHOX2A
Paired-like aristaless homeobox protein 2A



11q13.2
* Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 (16.6)

PHYH
Phytanoyl-CoA 2-hydroxylase



10q13
* Refsum disease, adult - RD (13.66)

PIP5K1C
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



19p13.3
* Lethal congenital contractural syndrome 3 - LCCS3 (12.68)

PKP2
Plakophilin 2



12p11
* Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.86)

PLEC
plectin



8q24.3
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.37, 1.48, 5.17, 11.22)
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.37, 1.48, 5.17, 11.22)
* Myasthenic syndrome, with plectin defect - (1.37, 1.48, 5.17, 11.22)
* Limb girdle muscular dystrophy with ophthalmoplegia - (1.37, 1.48, 5.17, 11.22)

PLEKHG5
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



1p36
* spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.8, 14.73)
* Axonal neuropathy intermediate recessive C - CMTRIC (12.8, 14.73)

PLN
Phospholamban



6q22.1
* Hypertrophic cardiomyopathy related to phospholamban - (10.19, 10.45)
* Cardiomyopathy, familial hypertrophic, 18 - CMH18 (10.19, 10.45)
* Cardiomyopathy, dilated, 1P - CMD1P (10.19, 10.45)

PLP1
Proteolipid protein 1



Xq22
* Spastic paraplegia 2 - SPG2 (15.64)

PMP2
peripheral myelin protein-2



8q21.13
* charcot-marie-tooth neuropathy, dominant intermediate A - CMTDIA (14.11)

PMP22
Peripheral myelin protein 22



17p12-p11.2
* Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.36)
* Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.36)
* Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.36)
* Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.36)

PNKP
polynucleotide kinase 3’-phosphatase



19q13.33
* Early-onset axonal Charcot-Marie-Tooth with ataxia - (14.67)

PNPLA2
Adipose triglyceride lipase (desnutrin)



1p15.5
* Neutral lipid storage disease without ichthyosis - NLSDM (9.25)

PNPLA6
Patatin-like phospholipase domain containing 6



19p13.3-p13.2
* Spastic paraplegia 39, autosomal recessive - SPG39 (15.37)

PNPLA8
Patatin-like phospholipase domain containing 8(M)



7q31.1
* Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.28)

POLG
Polymerase (DNA directed), gamma(M)



15q25
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.62, 16.16)
* spinocerebellar ataxia with epilepsy, included - SCAE (13.62, 16.16)
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.62, 16.16)

POLG2
Mitochondrial DNA polymerase, accessory subunit(M)



17q24.1
* progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.19)

POMGNT1
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



1p34.1
* Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.35, 2.24, 2.28)
* Walker-Warburg syndrome - WWS (1.35, 2.24, 2.28)
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.35, 2.24, 2.28)
* Muscle-eye-brain disease - MEB (1.35, 2.24, 2.28)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 (1.35, 2.24, 2.28)

POMGNT2
protein O-linked mannose N-acetylglucosaminyltransferase 2



3p22.1
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8 (2.26)
* Walker-Warburg syndrome - WWS (2.26)

POMK
Protein-O-mannose kinase



8p11.21
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12 (2.40)

POMT1
Protein-O-mannosyltransferase 1



9q34.1
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 (1.31, 2.21)
* Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.31, 2.21)
* Walker-Warburg syndrome - WWS (1.31, 2.21)

POMT2
Protein-O-mannosyltransferase 2



14q24.3
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.34, 2.22, 2.30)
* Walker-Warburg syndrome - WWS (1.34, 2.22, 2.30)
* Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.34, 2.22, 2.30)
* Muscle-eye-brain disease - MEB (1.34, 2.22, 2.30)

PPP2R2B
Protein phosphatase 2 regulatory subunit B, beta isoform



5q31-5q32
* Spinocerebellar ataxia 12 - SCA12 (13.11)

PRDM12
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)



9q34.12
* Hereditary sensory and autonomic neuropathy type VIII - HSAN8 (14.90)

PREPL
Prolyl endopeptidase-like



2p22.1
* Congenital myasthenic syndrome related to PREPL deficiency - (11.26)

PRKAG2
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



7q31
* Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome - CMH6 (9.10, 10.5)
* glycogen storage disease of heart, lethal congenital - (9.10, 10.5)

PRKCG
Protein kinase C, gamma



19q13.4
* Spinocerebellar ataxia 14 - SCA14 (13.13)

PRPH
Peripherin



12q13.12
* Susceptibility to amyotrophic lateral sclerosis related to peripherin - (12.60)

PRPS1
Phosphoribosyl pyrophosphate synthetase 1



Xq21.32-q24
* charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.34)

PRX
Periaxin



19q13
* Charcot-Marie-Tooth disease, type 4F - CMT4F (14.25, 14.39)
* Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.25, 14.39)

PSEN2
Presenilin 2



1q42.13
* Cardiomyopathy, dilated, 1W - CMD1U (10.50)

PTPLA
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



10p12.33
* Congenital myopathy related to PTPLA - (3.44)

PTRF
Polymerase I and transcript release factor(M)



17q21-q23
* lipodystrophy, congenital generalized, type 4 - CGL4 (1.12)

PUS1
Pseudouridylate synthase 1(M)



12q24.33
* Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.28)

PYGM
Glycogen phosphorylase



11q12-q13.2
* McArdle disease - PYGM (9.4)

PYRODX1
Pyridine nucleotidedisulphide oxidoreductase domain 1



12p12.1
* Early-onset myofibrillar myopathy with PYRODX1 defect - (5.28)