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Childhood onset hereditary spastic paraplegia v1.166 MTPAP Louise Daugherty commented on gene: MTPAP: Amber gene with Green 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 v1.164 MTPAP Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.118 MTPAP Louise Daugherty Publications for gene: MTPAP were set to
Childhood onset hereditary spastic paraplegia v1.75 MTPAP Louise Daugherty Source Yorkshire and North East GLH was added to MTPAP.
Childhood onset hereditary spastic paraplegia v1.74 MTPAP Nick Beauchamp reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970105, 27391121; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 MTPAP Louise Daugherty commented on gene: MTPAP: 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 v1.62 MTPAP Louise Daugherty commented on gene: MTPAP: Amber rating on Hereditary spastic paraplegia panel 1.198

2 entries on HGMD Pro Crosby (2010, 20970105); variant proposed as cause of spastic paraplegia in Amish population as founder mutation. p.N478D: Slowly progressive autosomal-recessive neurodegenerative condition, the key features of which are cerebellar ataxia, spastic paraparesis, dysarthria, optic atrophy, learning difficulties. Functional studies showed loss of polyadenylation of mitochondrial transcripts Additional functional characterisation in Wilson (2014, 25008111) Al-Shamsi (2016, 27391121) Biparental, homozygous c.1468G > T (p.V490L). 2 sibs with developmental delay and regression at 8 months of age, central hypotonia, short stature, failure to thrive, cerebellar atrophy, absence-like episodes, and hip dislocation. Parents were heterozygous. no functional studies.
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018 Submitted Amber rating
Childhood onset hereditary spastic paraplegia v1.62 MTPAP Louise Daugherty Classified gene: MTPAP as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.62 MTPAP Louise Daugherty Gene: mtpap has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.48 MTPAP Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.27 MTPAP Louise Daugherty Phenotypes for gene: MTPAP were changed from Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive to Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive; ?Spastic ataxia 4, autosomal recessive, 613672
Childhood onset hereditary spastic paraplegia v1.26 MTPAP Louise Daugherty Classified gene: MTPAP as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.26 MTPAP Louise Daugherty Gene: mtpap has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.6 MTPAP James Polke reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, 613672; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.5 MTPAP Louise Daugherty Source NHS GMS was added to MTPAP.
Childhood onset hereditary spastic paraplegia v1.4 MTPAP Louise Daugherty Source London North GLH was added to MTPAP.
Childhood onset hereditary spastic paraplegia v1.3 MTPAP Louise Daugherty Added phenotypes Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive for gene: MTPAP
Childhood onset hereditary spastic paraplegia v0.6 MTPAP Sarah Leigh gene: MTPAP was added
gene: MTPAP was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Red
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were set to Spastic ataxia 4, autosomal recessive; Ataxia, spastic, 4