Hereditary spastic paraplegia - childhood onset

Gene: PCYT2

Green List (high evidence)

PCYT2 (phosphate cytidylyltransferase 2, ethanolamine)
EnsemblGeneIds (GRCh38): ENSG00000185813
EnsemblGeneIds (GRCh37): ENSG00000185813
OMIM: 602679, Gene2Phenotype
PCYT2 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added to panel based on sufficient cases in PMID:31637422 with HSP phenotype. Updated rating to Green following confirmation from Helen Brittain, Genomics England Clinical Team, that phenotype is appropriate for the panel. Added 'for-review' tag so that GLHs can confirm that gene is indeed required for childhood onset panel (as Helen notes: one patient had onset at 16 and mild delay of motor skills).
Created: 11 May 2020, 3:07 p.m. | Last Modified: 11 May 2020, 3:07 p.m.
Panel Version: 2.12
PMID:31637422. In 5 patients from 4 unrelated families with autosomal recessive spastic paraplegia-82 (MIM:618770), Vaz et al. (2019) identified homozygous or compound heterozygous mutations in the PCYT2 gene. The variants segregated with the disorder in all families. Functional studies showed reduced (not absent) PYCT2 activity.
Sources: Literature
Created: 11 May 2020, 3:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 82, autosomal recessive, 618770

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Spastic paraplegia 82, autosomal recessive, 618770
Tags
for-review
OMIM
602679
Clinvar variants
Variants in PCYT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2020, Gel status: 3

Added Tag

Rebecca Foulger (Genomics England curator)

Tag for-review tag was added to gene: PCYT2.

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

11 May 2020, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PCYT2 was added gene: PCYT2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature 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 Spastic paraplegia 82, autosomal recessive, 618770