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  3. ARL6IP1
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Hereditary neuropathy

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

2 reviews

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: 1.300

Alexander Rossor (UCL Institute of Neurology)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Childhood onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy

Publications

Created: 6 Jun 2019, 10:52 a.m.

Panel version: 1.121

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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

6 Jun 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ARL6IP1 were set to

6 Jun 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ARL6IP1 were changed from to Spastic paraplegia 61, autosomal recessive, 615685; Childhood onset spastic paraplegia with mutilating, sensory to motor axonal neuropathy

6 Jun 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ARL6IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Jun 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ARL6IP1.

6 Jun 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ARL6IP1 was added gene: ARL6IP1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: ARL6IP1 was set to