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Mendeliome

Gene: ATL1

Green List (high evidence)

ATL1 (atlastin GTPase 1)
EnsemblGeneIds (GRCh38): ENSG00000198513
EnsemblGeneIds (GRCh37): ENSG00000198513
OMIM: 606439, Gene2Phenotype
ATL1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neuropathy: Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement. Five unrelated families reported.

HSP: both mono-allelic and bi-allelic disease, with bi-allelic being earlier onset and more severe. Hom nonsense (PMID: 24473461) and hom missense (PMID: 26888483) were reported for AR HSP. Disease mechanism (PTC variants): LoF. Disease mechanism (missense variants): Dominant negative: Mutant atlastin-1 protein functionally impair the atlastin-1 oligomer by binding to WT protein —> reduce GTPase activity (PMID: 16537571) —> cause HSP3A.

Variants fall outside of the GTPase related motifs or the conserved motifs are linked to neuropathy, suggesting an alternative mechanism is used apart from dom-neg (PMID: 28396731) —> cause HSN1D

More than 90% of the mutations were located in exon 4, 7, 8 and 12 (PMID: 16401858)
Created: 30 Apr 2021, 9:38 p.m. | Last Modified: 30 Apr 2021, 9:38 p.m.
Panel Version: 0.7447

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381; Spastic paraplegia 3A, MIM 182600; Hereditary spastic paraplegia, AR

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuropathy, hereditary sensory, type ID , MIM#613708
  • MONDO:0013381
  • Spastic paraplegia 3A, MIM 182600
  • Hereditary spastic paraplegia, AR
OMIM
606439
Clinvar variants
Variants in ATL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atl1 has been classified as Green List (High Evidence).

30 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATL1 were changed from Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381 to Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381; Spastic paraplegia 3A, MIM 182600; Hereditary spastic paraplegia, AR

30 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ATL1 were changed from to Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381

30 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATL1 were set to

30 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ATL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATL1 was added gene: ATL1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATL1 was set to Unknown