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Hereditary neuropathy or pain disorder

Gene: ARL6IP1

Green List (high evidence)
ARL6IP1 (ADP ribosylation factor like GTPase 6 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000170540
EnsemblGeneIds (GRCh37): ENSG00000170540
OMIM: 607669, Gene2Phenotype
ARL6IP1 is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
ARL6IP1 variants have been associated with Spastic paraplegia 61, autosomal recessive (OMIM:615685). At least five variants have been reported in at least six unrelated cases. Neuopathy is a common feature in cases with OMIM:615685.
Created: 4 Nov 2024, 11:26 a.m. | Last Modified: 4 Nov 2024, 11:26 a.m.
Panel Version: 6.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 61, autosomal recessive, OMIM:615685; hereditary spastic paraplegia 61, MONDO:0014304

Publications

Created: 4 Nov 2024, 11:26 a.m.
Last Modified: 4 Nov 2024, 11:26 a.m.
Panel version: 6.148

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

multiple individuals with neuropathy
Created: 15 Oct 2024, 10:15 p.m. | Last Modified: 15 Oct 2024, 10:16 p.m.
Panel Version: 5.19

Phenotypes
Spastic paraplegia; neuropathy

Publications

Created: 15 Oct 2024, 10:15 p.m.
Last Modified: 15 Oct 2024, 10:16 p.m.
Panel version: 5.19

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
Created: 11 Jun 2019, 1:40 p.m.

Panel version: Imported from Hereditary neuropathy panel version 1.300

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 61, autosomal recessive, 615685
  • Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy
OMIM
607669
Clinvar variants
Variants in ARL6IP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: ARL6IP1. Tag Q3_24_NHS_review was removed from gene: ARL6IP1.

24 Feb 2025, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to ARL6IP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: arl6ip1 has been classified as Amber List (Moderate Evidence).

4 Nov 2024, Gel status: 1

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: ARL6IP1. Tag Q3_24_NHS_review tag was added to gene: ARL6IP1.

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ARL6IP1 was added gene: ARL6IP1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6IP1 were set to 24482476 Phenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive, 615685; Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy