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  2. Hereditary Spastic Paraplegia - paediatric
  3. PCYT2
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Hereditary Spastic Paraplegia - paediatric

Gene: PCYT2

Green List (high evidence)
PCYT2 (phosphate cytidylyltransferase 2, ethanolamine)
EnsemblGeneIds (GRCh38): ENSG00000185813
EnsemblGeneIds (GRCh37): ENSG00000185813
OMIM: 602679, Gene2Phenotype
PCYT2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Biallelic hypomorph variants in 5 affected cases from 4 families with complicated hereditary spastic paraplegia, onset between 2 and 16 years of age. Zebrafish model similar to previous HSP zebrafish models.
Sources: Expert list
Created: 19 Sep 2020, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy

Publications

Created: 19 Sep 2020, 8:08 a.m.

Panel version: 0.129

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • global developmental delay
  • regression
  • spastic parapesis or tetraparesis
  • epilepsy
  • progressive cerebral and cerebellar atrophy
OMIM
602679
Clinvar variants
Variants in PCYT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcyt2 has been classified as Green List (High Evidence).

19 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcyt2 has been classified as Green List (High Evidence).

19 Sep 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: PCYT2 was added gene: PCYT2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 31637422 Phenotypes for gene: PCYT2 were set to global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy Review for gene: PCYT2 was set to GREEN