Adult onset hereditary spastic paraplegia
Gene: ARL6IP1
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, 11:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
24482476; 28471035
Variants in this GENE are reported as part of current diagnostic practice
Follow up review and rating after GMS Neurology Specialist Test Group Webex on 17th May 2019. Review submitted by James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group, gene rated as AMBERCreated: 30 May 2019, 4:26 p.m.
Comment on list classification: Gene discussed in view of onset. Gene downgraded from Green to Amber, rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 30 May 2019, 4:20 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.
Phenotypes for gene: ARL6IP1 were changed from 24482476; 28471035 to Spastic paraplegia 61, autosomal recessive, 615685
Source London North GLH was added to ARL6IP1.
Gene: arl6ip1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ARL6IP1 were changed from to 24482476; 28471035
Source NHS GMS was added to ARL6IP1.
Source Yorkshire and North East GLH was added to ARL6IP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: arl6ip1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: ARL6IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene ARL6IP1 were changed from to 24482476; 28471035
gene: ARL6IP1 was added gene: ARL6IP1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: ARL6IP1 was set to