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Childhood onset hereditary spastic paraplegia v2.64 | REEP2 | Arina Puzriakova Publications for gene: REEP2 were set to 24388663; 28491902; 24482476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.166 | REEP2 | Louise Daugherty commented on gene: REEP2: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.165 | REEP2 |
Louise Daugherty Source Expert Review Green was added to REEP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset hereditary spastic paraplegia v1.164 | REEP2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.113 | REEP2 | Louise Daugherty Phenotypes for gene: REEP2 were changed from ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 to Spastic paraplegia 72, autosomal dominant,615625; Spastic paraplegia 72, autosomal recessive, 615625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.112 | REEP2 | Louise Daugherty Publications for gene: REEP2 were set to 24388663 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.75 | REEP2 | Louise Daugherty Source Yorkshire and North East GLH was added to REEP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.74 | REEP2 | Nick Beauchamp reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24388663, 28491902, 24482476; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.74 | REEP2 | Louise Daugherty commented on gene: REEP2: 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 v1.66 | REEP2 | Louise Daugherty Classified gene: REEP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.66 | REEP2 | Louise Daugherty Gene: reep2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.65 | REEP2 |
Louise Daugherty commented on gene: REEP2: Amber rating on Hereditary spastic paraplegia panel 1.198 Roda (2017, 28491902). de novo REEP2 missense (c.119T > G, p.Met40Arg) at a highly-conserved residue very close to another known pathogenic missense change. No functional studies. Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating. Comment on list classification: changed from red to amber based on upon two families Louise Daugherty (Genomics England Curator), 30 Nov 2017 Known to be a movement disorder associated gene. Associated with phenotype in OMIM. At least 3 variants reported in 2 large unrelated families, Autosomal dominant inheritance was reported in one family and autosomal recessive inheritance in another. Observed clinical phenotype includes difficulty in walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Cognition, speech, and ocular function are normal (summary by Esteves et al., PMID:24388663) Louise Daugherty (Genomics England Curator), 27 Nov 2017 |
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Childhood onset hereditary spastic paraplegia v1.48 | REEP2 | Louise Daugherty reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.40 | REEP2 | Louise Daugherty Classified gene: REEP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.40 | REEP2 | Louise Daugherty Gene: reep2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | REEP2 | James Polke reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant, 615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.5 | REEP2 | Louise Daugherty Source NHS GMS was added to REEP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.4 | REEP2 | Louise Daugherty Source London North GLH was added to REEP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | REEP2 | Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.6 | REEP2 |
Sarah Leigh gene: REEP2 was added gene: REEP2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Other,Literature Mode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: REEP2 were set to 24388663 Phenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant,615625 |