Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3300
Gene Symbol: DNAJB2
DNAJB2
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.320 Biomarker GENOMICS_ENGLAND HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. 25274842

2014
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.310 Biomarker GENOMICS_ENGLAND Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis. 28940190

2017
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14. 29603387

2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. 28333917

2017
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 26556829

2016
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. 27164712

2016
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 26392352

2015
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 24355708

2014
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 20170900

2010
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. 15643603

2005
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). 14508710

2003
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. 12244316

2002
Entrez Id: 54840
Gene Symbol: APTX
APTX
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. 11176957

2001
Entrez Id: 54840
Gene Symbol: APTX
APTX
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. 11176957

2001
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Peripheral neuropathy in abetalipoproteinemia. 2991816

1985
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Peripheral neuropathy in abetalipoproteinemia. 2991816

1985
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 26278
Gene Symbol: SACS
SACS
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 5191
Gene Symbol: PEX7
PEX7
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND