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  3. ARL6IP1
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Hereditary spastic paraplegia

Gene: ARL6IP1

Red List (low 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

1 review

Chris Buxton (North Bristol NHS Trust)

I don't know

28471035 (Nizon 2018)
24482476 (Novarino 2014)
Created: 26 Nov 2018, 4:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spastic paraplegia; sensory and motor polyneuropathy; congenital insensitivity to pain; acromutilation; spastic paraplegia

Publications

Created: 26 Nov 2018, 4:42 p.m.

Panel version: 1.71

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
OMIM
607669
Clinvar variants
Variants in ARL6IP1
Penetrance
Complete
Publications
  • Novarino et al. (2014)
Panels with this gene

History Filter Activity

9 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ARL6IP1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ARL6IP1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ARL6IP1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list