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 (5.21)

PAX7
Paired Box gene 7



1p36.13
* Myopathy, congenital, progressive with scoliosis - MYOSCO (3.47)

PCNA
Proloferating cell nuclear antigen



20p12.3
* Ataxia telangiectasia-like disorder 2 - ATLD2 (13.101)

PCYT2
Phosphate cytidylyltransferase 2, ethanolamine



17q25.3
* Spastic paraplegia 82, autosomal recessive - SPG82 (15.74)

PDK3
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



Xp22.11
* Charcot-Marie-Tooth neuropathy X-linked 6 - (14.48)

PDYN
Prodynorphin



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

PEX7
Peroxisomal biogenesis factor 7



6q21-q22
* Refsum disease, adult - RD (13.104)

PFKM
Phosphofructokinase, muscle



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

PFN1
Profilin 1



17p13.2
* Amyotrophic lateral sclerosis 18 - ALS18 (12.69)

PGAM2
Phosphoglycerate mutase 2 (muscle)



7p13-p12
* Glycogen storage disease X - GSD10 (9.14)
* Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.14)

PGK1
Phosphoglycerate kinase 1



Xq13
* posphoglycerate kinase deficiency - (9.13)

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 (13.103)

PI4KA
Phosphatidylinositol 4-kinase, alpha



22q11.21
* Spastic paraplegia 84, autosomal recessive - SPG84 (15.76)

PIEZO2
Piezo-type mechanosensitive ion channel component 2



18p11.22-p11.21
* Arthrogryposis, distal, type 3 - DA3 (16.16, 16.17)
* Arthrogryposis, distal, type 5 - DA5 (16.16, 16.17)

PIGK
Phosphatidylinositol Glycan Anchor Biosynthesis Class K Protein



1p31.1
* Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy - NEDHCAS (13.109)

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



19p13.3
* Lethal congenital contractural syndrome 3 - LCCS3 (12.89)

PITRM1
Pitrilysin metallopeptidase 1



10p15.2
* Spinocerebellar ataxia, autosomal recessive 30 - SCAR30 (13.90)

PKP2
Plakophilin 2



12p11.21
* Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.122)

PLD3
Phospholipase D family, member 3



19q13.2
* Spinocerebellar ataxia 46 - SCA46 (13.43)

PLEC
Plectin



8q24.3
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.35, 1.59, 5.27, 11.36)
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.35, 1.59, 5.27, 11.36)
* Myasthenic syndrome, with plectin defect - (1.35, 1.59, 5.27, 11.36)
* Limb girdle muscular dystrophy with ophthalmoplegia - (1.35, 1.59, 5.27, 11.36)

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



1p36
* spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.16, 14.25)
* Axonal neuropathy intermediate recessive C - CMTRIC (12.16, 14.25)

PLIN4
Perilipin 4



19p13.3
* Distal Myopathy - (4.26)

PLN
Phospholamban



6q22.1
* Hypertrophic cardiomyopathy related to phospholamban - (10.19, 10.54)
* Cardiomyopathy, familial hypertrophic, 18 - CMH18 (10.19, 10.54)
* Cardiomyopathy, dilated, 1P - CMD1P (10.19, 10.54)

PLP1
Proteolipid protein 1



Xq22
* Spastic paraplegia 2 - SPG2 (15.85)

PMP2
peripheral myelin protein-2



8q21.13
* Charcot-Marie Tooth disease, demyelinating type 1G - CMT1G (14.8)

PMP22
Peripheral myelin protein 22



17p12-p11.2
* Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.50)
* Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.50)
* Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.50)
* Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.50)

PMPCA
Mitochondrial processing peptidase-alpha, KIAA0123



9q34.3
* Autosomal recessive spinocerebellar ataxia, 2 - SCAR2 (13.62)

PNKP
polynucleotide kinase 3’-phosphatase



19q13.33
* Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.89, 14.97)
* Early-onset axonal Charcot-Marie-Tooth with ataxia - (14.89, 14.97)

PNPLA2
Adipose triglyceride lipase (desnutrin)



1p15.5
* Neutral lipid storage disease without ichthyosis - NLSDM (9.27)

PNPLA6
Patatin-like phospholipase domain containing 6



19p13.3-p13.2
* Spastic paraplegia 39, autosomal recessive - SPG39 (15.45)

PNPLA8
Patatin-like phospholipase domain containing 8(M)



7q31.1
* Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.29)

POGLUT1
Protein O-Glucosyltransferase 1



3q13.33
* Limb-Girdle, Muscular dystrophy, type 2Z - LGMD2Z (1.37)

POLG
Polymerase (DNA directed), gamma(M)



15q25
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.98, 16.34, 16.40, 16.48, 16.49)
* spinocerebellar ataxia with epilepsy, included - SCAE (13.98, 16.34, 16.40, 16.48, 16.49)
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.98, 16.34, 16.40, 16.48, 16.49)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.98, 16.34, 16.40, 16.48, 16.49)
* Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.98, 16.34, 16.40, 16.48, 16.49)
* Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.98, 16.34, 16.40, 16.48, 16.49)

POLG2
Mitochondrial DNA polymerase, accessory subunit(M)



17q24.1
* progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.37)

POLR3B
Polymerase III, RNA, Subunit B



12q23.3
* Charcot-Marie-Tooth neuropathy - CMT1I (14.9)

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



1p34.1
* Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.48, 2.20, 2.34)
* Muscular dystrophy, limb-girdle, autosomal recessive 15 - LGMDR15 (1.48, 2.20, 2.34)
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.48, 2.20, 2.34)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 (1.48, 2.20, 2.34)

POMGNT2
protein O-linked mannose N-acetylglucosaminyltransferase 2



3p22.1
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8 (1.52, 2.25)
* Walker-Warburg syndrome - WWS (1.52, 2.25)
* LGMDR24 - (1.52, 2.25)

POMK
Protein-O-mannose kinase



8p11.21
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12 (1.54, 2.29)
* Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 - MDDGC12 (1.54, 2.29)

POMT1
Protein-O-mannosyltransferase 1



9q34.1
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 (1.46, 2.18, 2.32)
* Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.46, 2.18, 2.32)
* Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - MDDGB1 (1.46, 2.18, 2.32)
* Walker-Warburg syndrome - WWS (1.46, 2.18, 2.32)

POMT2
Protein-O-mannosyltransferase 2



14q24.3
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.47, 2.19, 2.33)
* Walker-Warburg syndrome - WWS (1.47, 2.19, 2.33)
* Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.47, 2.19, 2.33)
* Muscle-eye-brain disease - MEB (1.47, 2.19, 2.33)

POPDC3
Popeye domain-containing protein 3



6q21
* LGMDR26 - LGMDR26 (1.43)

PPCS
Phosphopantothenosylcystein synthetase



1p34.2
* Dilated cardiomyopathy, 2C - CDMD2C (10.84)

PPP2R2B
Protein phosphatase 2 regulatory subunit B, beta isoform



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 (14.117)

PRDM16
PR Domain-Containing Protein 16



1p36.32
* Dilated cardiomyopathy related to PRDM16 - CMD1LL (10.111, 10.76)
* LEFT VENTRICULAR NONCOMPACTION 8 - LVNC8 (10.111, 10.76)
* Left ventricular noncompaction 8 - LVNC8 (10.111, 10.76)

PRDX3
Peroxiredoxin 3



10q26.11
* Spinocerebellar ataxia, autosomal recessive 32 - SCAR32 (13.92)

PREPL
Prolyl endopeptidase-like



2p21
* Myasthenic syndrome, congenital, 22 - CMS22 (11.30)

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



19q13.42
* Spinocerebellar ataxia 14 - SCA14 (13.13)

PRPH
Peripherin



12q13.12
* Susceptibility to amyotrophic lateral sclerosis related to peripherin - (12.79)

PRPS1
Phosphoribosyl pyrophosphate synthetase 1



Xq21.32-q24
* charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.47)

PRUNE1
Prune exopolyphosphatase 1



1q21.3
* Spinal muscular atrophy, related to PRUNE1 - (12.105)

PRX
Periaxin



19q13
* Charcot-Marie-Tooth disease, type 4F - CMT4F (14.36, 14.53)
* Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.36, 14.53)

PSAT1
Phosphoserine Aminotransferase 1



9q21.2
* Progressive neuropathy - (14.105)

PSEN1
Presenilin 1



14q24.2
* Cardiomyopathy, dilated, 1U - CMD1U (10.59)

PSEN2
Presenilin 2



1q42.13
* Cardiomyopathy, dilated, 1W - CMD1V (10.60)

PTRH2
Peptidyl-tRNA Hydrolase 2(M)



17q23.1
* Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD (16.72)

PUM1
Pumilio, Drosophila, Homologh of, 1



1p35.2
* Spinocerebellar ataxia 47 - SCA47 (13.44)

PUS1
Pseudouridylate synthase 1(M)



12q24.33
* Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.61)

PYGM
Glycogen phosphorylase



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

PYROXD1
Pyridine nucleotidedisulphide oxidoreductase domain 1



12p12.1
* Early-onset myofibrillar myopathy with PYRODX1 defect - (1.60, 3.59, 5.9)
* LGMD related to PYROXD1 - (1.60, 3.59, 5.9)
* Congenital Myopathy related to PYROXD1 - (1.60, 3.59, 5.9)