Activity
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12 actions
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| Childhood onset hereditary spastic paraplegia v2.125 | PCYT2 | Ivone Leong Tag for-review was removed from gene: PCYT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.125 | PCYT2 | Sarah Leigh commented on gene: PCYT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.124 | PCYT2 |
Ivone Leong Source Expert Review Green was added to PCYT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset hereditary spastic paraplegia v2.19 | PCYT2 | Arina Puzriakova changed review comment from: Comment on list classification: The rating of this gene should be reviewed at the next GMS panel update. Based on the review by Rebecca Foulger, there is sufficient evidence to rate this gene Green.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.16 | PCYT2 | Arina Puzriakova Classified gene: PCYT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.16 | PCYT2 | Arina Puzriakova Added comment: Comment on list classification: The rating of this gene should be reviewed at the next GMS panel update. Based on the review by Rebecca Foulger, there is sufficient evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.16 | PCYT2 | Arina Puzriakova Gene: pcyt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.12 | PCYT2 | Rebecca Foulger Tag for-review tag was added to gene: PCYT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.12 | PCYT2 | Rebecca Foulger Classified gene: PCYT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.12 | PCYT2 | Rebecca Foulger Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.12 | PCYT2 | Rebecca Foulger Gene: pcyt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v2.11 | PCYT2 |
Rebecca Foulger 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 Added comment: 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 |
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