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  2. Hereditary Spastic Paraplegia - paediatric
  3. ARL6IP1
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Hereditary Spastic Paraplegia - paediatric

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 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: 19 Apr 2020, 8:25 a.m. | Last Modified: 19 Apr 2020, 8:25 a.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 61, autosomal recessive 615685

Publications

Created: 19 Apr 2020, 8:25 a.m.
Last Modified: 19 Apr 2020, 8:25 a.m.
Panel version: 0.61

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 61, autosomal recessive, MIM#615685
OMIM
607669
Clinvar variants
Variants in ARL6IP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARL6IP1 were set to 30980493; 24482476; 28471035

16 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARL6IP1 were changed from ?Spastic paraplegia 61, autosomal recessive, MIM#615685 to Spastic paraplegia 61, autosomal recessive, MIM#615685

16 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARL6IP1 was added gene: ARL6IP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6IP1 were set to 30980493; 24482476; 28471035 Phenotypes for gene: ARL6IP1 were set to ?Spastic paraplegia 61, autosomal recessive, MIM#615685