Hereditary spastic paraplegia - childhood onsetGene: GAD1
Red 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, 4:50 p.m.
Source Expert Review Amber was added to GAD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Phenotypes for gene: GAD1 were changed from Cerebralpalsy,spasticquadriplegic,1,603513 to Cerebralpalsy, spasticquadriplegic, 1, 603513
Mode of inheritance for gene: GAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to GAD1.
Source Yorkshire and North East GLH was added to GAD1.
Added phenotypes Cerebralpalsy,spasticquadriplegic,1,603513 for gene: GAD1
Rebecca Foulger: Comment on list classification
gene: GAD1 was added gene: GAD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: GAD1 was set to Phenotypes for gene: GAD1 were set to Cerebralpalsy,spasticquadriplegic,1,603513