Hereditary spastic paraplegia - adult onsetGene: AP4B1
Green gene with Amber 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.
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.
Victoria: neonatal onset. Neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development, some dysmorphic features. MRI: thin corpus callosum, white matter abnormality.. Several oublications. In Sheffields HSP panel
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 47, autosomal recessive, 614066
Publications for gene: AP4B1 were set to
Source Yorkshire and North East GLH was added to AP4B1.
Source Expert Review Green was added to AP4B1. Mode of inheritance for gene AP4B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to AP4B1.
gene: AP4B1 was added gene: AP4B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AP4B1 was set to