Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: PCYT2

Red List (low evidence)

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

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

Brain imaging shows progressive cerebral and cerebellar atrophy however, normal initially.

5 individuals from 4 families reported with progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some never achieved walking, whereas others lost the ability to walk or walk with an unsteady gait. Additional features included variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Overall poor growth, but only one individual reported with microcephaly -3SD, and head size appears relatively spared against other reported growth parameters.
Sources: Literature
Created: 2 Mar 2022, 3:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 82, autosomal recessive MIM#618770

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 82, autosomal recessive MIM#618770
OMIM
602679
Clinvar variants
Variants in PCYT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcyt2 has been classified as Red List (Low Evidence).

2 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcyt2 has been classified as Red List (Low Evidence).

2 Mar 2022, Gel status: 0

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

Belinda Chong (Victorian Clinical Genetics Services)

gene: PCYT2 was added gene: PCYT2 was added to Fetal anomalies. 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 MIM#618770 Review for gene: PCYT2 was set to RED gene: PCYT2 was marked as current diagnostic