Adult onset hereditary spastic paraplegia
Gene: PCYT2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 6:48 p.m. | Last Modified: 3 Mar 2022, 6:48 p.m.
Panel Version: 1.90
Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.Created: 5 Oct 2020, 8:50 a.m. | Last Modified: 19 Oct 2020, 4:28 p.m.
Panel Version: 1.13
Comment on list classification: Added to panel as Green for now based on sufficient cases with HSP phenotype in PMID:31637422. Added 'for-review' tag as suggested by Helen Brittain, Genomics England Clinical Team, as this gene requires additional review by GLH as to appropriateness for adult panel.Created: 11 May 2020, 3 p.m. | Last Modified: 11 May 2020, 3 p.m.
Panel Version: 1.7
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: LiteratureCreated: 11 May 2020, 2:58 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 82, autosomal recessive, 618770
Publications
Tag for-review was removed from gene: PCYT2.
Source Expert Review Green was added to PCYT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: pcyt2 has been classified as Amber List (Moderate Evidence).
Gene: pcyt2 has been classified as Green List (High Evidence).
Tag for-review tag was added to gene: PCYT2.
gene: PCYT2 was added gene: PCYT2 was added to Hereditary spastic paraplegia - adult 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