| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Childhood onset hereditary spastic paraplegia v1.166 | DSTYK | Louise Daugherty commented on gene: DSTYK: Red gene with Green and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.165 | DSTYK |
Louise Daugherty Source Expert Review Amber was added to DSTYK. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Childhood onset hereditary spastic paraplegia v1.137 | DSTYK | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.75 | DSTYK | Louise Daugherty Source Yorkshire and North East GLH was added to DSTYK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.74 | DSTYK | Louise Daugherty commented on gene: DSTYK: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.73 | DSTYK | Nick Beauchamp reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28157540; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.53 | DSTYK | Louise Daugherty Classified gene: DSTYK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.53 | DSTYK | Louise Daugherty Gene: dstyk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.52 | DSTYK |
Louise Daugherty commented on gene: DSTYK: Red rating on Hereditary spastic paraplegia panel 1.198 Added 'Founder effect' tag based on haplotype analysis in Lee et al. (2017, PMID:28157540) which indicates a founder effect- the same deletion/insertion was identified in 3 unrelated families. At the time of curation, PMID:28157540 provides all evidence for the disease:gene association. Rebecca Foulger (Genomics England curator), 11 May 2017 In affected members of 3 unrelated families of Middle Eastern descent with spastic paraplegia-23 (MIM:270750) Lee et al. (2017, PMID:28157540) identified a homozygous intragenic deletion/insertion in the DSTYK gene. The deletion segregated with the disorder in all 3 families. Haplotype analysis indicated a founder effect. The deletion insertion consisted of a 4-kb deletion associated with a 20-bp insertion, resulting in the removal of the last 2 exons of DSTYK (exons 12 and 13) along with part of the 3-prime untranslated region. Rebecca Foulger (Genomics England curator), 11 May 2017 |
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| Childhood onset hereditary spastic paraplegia v1.48 | DSTYK | Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.16 | DSTYK | Louise Daugherty Classified gene: DSTYK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.16 | DSTYK | Louise Daugherty Gene: dstyk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.15 | DSTYK | Louise Daugherty Phenotypes for gene: DSTYK were changed from Spastic paraplegia 23, 270750 to Spastic paraplegia 23, 270750; ongenital anomalies of kidney and urinary tract 1, 610805, AD; Spastic paraplegia 23, 270750, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.14 | DSTYK | Louise Daugherty Mode of inheritance for gene: DSTYK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.6 | DSTYK | James Polke reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital anomalies of kidney and urinary tract 1, 610805, AD, Spastic paraplegia 23, 270750, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.5 | DSTYK | Louise Daugherty Source NHS GMS was added to DSTYK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.4 | DSTYK | Louise Daugherty Source London North GLH was added to DSTYK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v1.3 | DSTYK | Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750 for gene: DSTYK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v0.6 | DSTYK |
Sarah Leigh gene: DSTYK was added gene: DSTYK was added to Hereditary spastic paraplegia - childhood onset. Sources: Other Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSTYK were set to 28157540 Phenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750 |
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