Hereditary spastic paraplegia - adult onsetGene: MTPAP
see current PA review status
Created: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive
Green gene with 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.
Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.
2 families reported but good funcional work, 6 affected members of a large consanguineous family of Old Order Amish-FAMILY early childhood onset of progressive cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy. In sheffield HSP panel
Created: 25 Apr 2019, 1:22 p.m.
?Spastic ataxia 4, autosomal recessive, 613672
Source Expert Review Amber was added to MTPAP. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Publications for gene: MTPAP were set to
Source Yorkshire and North East GLH was added to MTPAP.
Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive for gene: MTPAP
Source South West GLH was added to MTPAP.
Source Expert Review Green was added to MTPAP. Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to MTPAP.
gene: MTPAP was added gene: MTPAP was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: MTPAP was set to