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  3. ATL3
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Autonomic neuropathy

Gene: ATL3

Red List (low evidence)
ATL3 (atlastin GTPase 3)
EnsemblGeneIds (GRCh38): ENSG00000184743
EnsemblGeneIds (GRCh37): ENSG00000184743
OMIM: 609369, Gene2Phenotype
ATL3 is in 4 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Red List (low evidence)

Incorrect OMIM phenotype entered in previous review. ATL3 variants not associated with autonomic dysfunction.
Created: 11 Nov 2020, 5:40 a.m. | Last Modified: 11 Nov 2020, 5:40 a.m.
Panel Version: 0.21
Incorrect OMIM phenotype entered in previous review. ATL3 variants not associated with autonomic dysfunction.
Created: 11 Nov 2020, 5:40 a.m. | Last Modified: 11 Nov 2020, 5:40 a.m.
Panel Version: 0.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
# 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F

Variants in this GENE are reported as part of current diagnostic practice

Created: 11 Nov 2020, 5:40 a.m.
Last Modified: 11 Nov 2020, 5:40 a.m.
Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • # 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF
  • HSN1F
OMIM
609369
Clinvar variants
Variants in ATL3
Penetrance
None
Panels with this gene

History Filter Activity

11 Nov 2020, Gel status: 1

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: ATL3 were changed from OMIM# 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A to # 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F

11 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: atl3 has been classified as Red List (Low Evidence).

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: atl3 has been classified as Green List (High Evidence).

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: atl3 has been classified as Green List (High Evidence).

11 Nov 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: ATL3 was added gene: ATL3 was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: ATL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATL3 were set to OMIM# 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A Review for gene: ATL3 was set to GREEN gene: ATL3 was marked as current diagnostic