Hereditary spastic paraplegia - childhood onsetGene: ARL6IP1
Red 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.
Created: 21 May 2019, 4:50 p.m.
Appears to be childhood onset only. Two kindred reported but Novarino et al 2014 kindred with 4 affected individuals from 2 branches of family. No additional patients identified using Sheffield panel.
Created: 10 May 2019, 11:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to ARL6IP1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Phenotypes for gene: ARL6IP1 were changed from to Spastic paraplegia
Publications for gene: ARL6IP1 were set to Novarino et al. (2014)
Source NHS GMS was added to ARL6IP1.
Source Yorkshire and North East GLH was added to ARL6IP1.
Rebecca Foulger: Comment on list classification
gene: ARL6IP1 was added gene: ARL6IP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6IP1 were set to Novarino et al. (2014)