Hereditary spastic paraplegia - childhood onsetGene: PCYT2
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.
Created: 11 May 2020, 3:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 82, autosomal recessive, 618770
Tag for-review tag was added to gene: PCYT2.
Gene: pcyt2 has been classified as Green List (High Evidence).
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