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  2. Hereditary Spastic Paraplegia - paediatric
  3. NIPA1
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Hereditary Spastic Paraplegia - paediatric

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, but onset in late childhood also reported.
Sources: Expert list
Created: 18 Apr 2020, 7:56 a.m.

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.

Panel version: 0.38

Details

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

History Filter Activity

18 Apr 2020, 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).

18 Apr 2020, 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).

18 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NIPA1 was added gene: NIPA1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NIPA1 were set to 14508710; 15711826 Phenotypes for gene: NIPA1 were set to Spastic paraplegia 6, autosomal dominant, MIM# 600363 Review for gene: NIPA1 was set to GREEN