Hereditary Neuropathy - complex
Gene: ARL6IP1

ARL6IP1 (ADP ribosylation factor like GTPase 6 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000170540
EnsemblGeneIds (GRCh37): ENSG00000170540
OMIM: 607669, Gene2Phenotype
ARL6IP1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 4 families reported with paediatric onset complicated spastic paraplegia and neuropathy. Supporting zebrafish model.
Created: 16 Jun 2020, 6:39 a.m. | Last Modified: 16 Jun 2020, 6:39 a.m.

Panel Version: 0.63

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 61, autosomal recessive MIM#615685

Publications

Created: 16 Jun 2020, 6:39 a.m.
Last Modified: 16 Jun 2020, 6:39 a.m.
Panel version: 0.63

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

HSAN/SFN
Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy

OMIM

607669

Clinvar variants

Variants in ARL6IP1

Penetrance

None

Panels with this gene

History Filter Activity

16 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arl6ip1 has been classified as Green List (High Evidence).

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARL6IP1 was added gene: ARL6IP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL6IP1 were set to HSAN/SFN; Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy

Hereditary Neuropathy - complex Gene: ARL6IP1