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  3. NIPA1
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Hereditary Spastic Paraplegia - adult onset

Gene: NIPA1

Green List (high evidence)
NIPA1 (non imprinted in Prader-Willi/Angelman syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000170113
EnsemblGeneIds (GRCh37): ENSG00000170113
OMIM: 608145, Gene2Phenotype
NIPA1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Onset typically in second/third decade.
Sources: Expert list
Created: 18 Apr 2020, 7:56 a.m. | Last Modified: 16 Mar 2021, 5:18 a.m.
Panel Version: 0.84

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 6, autosomal dominant, MIM# 600363

Publications

Created: 18 Apr 2020, 7:56 a.m.
Last Modified: 16 Mar 2021, 5:18 a.m.
Panel version: 0.87

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 6, autosomal dominant, MIM# 600363
  • MONDO:0010878
OMIM
608145
Clinvar variants
Variants in NIPA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NIPA1 were set to 14508710; 15711826

16 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NIPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nipa1 has been classified as Green List (High Evidence).

16 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NIPA1 were changed from Spastic paraplegia 6, autosomal dominant, MIM# 600363 to Spastic paraplegia 6, autosomal dominant, MIM# 600363; MONDO:0010878

16 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NIPA1 were changed from Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 to Spastic paraplegia 6, autosomal dominant, MIM# 600363

16 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NIPA1 were set to

31 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NIPA1 was added gene: NIPA1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NIPA1 were set to Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363