Genes in panel

Hereditary neuropathy

Gene: NIPA1

Red List (low evidence)

NIPA1 (non imprinted in Prader-Willi/Angelman syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000170113
EnsemblGeneIds (GRCh37): ENSG00000170113
OMIM: 608145, Gene2Phenotype
NIPA1 is in 8 panels

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Unable to find any evidence of clear neuropathy association
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant

Publications

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: For Spastic paraplegia 6, autosomal dominant (Sourced from OMIM).
Created: 4 May 2016, 11:53 a.m.

Alexander Rossor (UCL Institute of Neurology)

Not a CMT gene
Created: 9 Dec 2015, 8:50 a.m.

Mary Reilly (Institute of Neurology)

Not a CMT gene
Created: 8 Dec 2015, 3:06 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • South West GLH
  • Emory Genetics Laboratory
Phenotypes
  • Hereditary Neuropathies
  • Spastic paraplegia 6, autosomal dominant
OMIM
608145
Clinvar variants
Variants in NIPA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant for gene: NIPA1 Publications for gene NIPA1 were changed from PMID: 22302102; 21419568; 14508710; 15643603; 15711826 to 22302102; 21419568; 15643603; 15711826; 14508710

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NIPA1.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to NIPA1.

4 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NIPA1 were set to PMID: 22302102; 21419568; 14508710; 15643603; 15711826

4 May 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for NIPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

4 May 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for NIPA1 were set to Hereditary Neuropathies; Spastic paraplegia 6, autosomal dominant

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NIPA1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory