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Hereditary Neuropathy_CMT - isolated

Gene: ATL3

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Classified as MODERATE gene-disease association by ClinGen - https://search.clinicalgenome.org/CCID:004201

"Although there is strong genetic and experimental supporting evidence available, the lack of additional families and an animal model limits the final classification to MODERATE."
Created: 8 Apr 2024, 11:20 p.m. | Last Modified: 8 Apr 2024, 11:20 p.m.
Panel Version: 1.39

Phenotypes
neuropathy, hereditary sensory, type 1F (MONDO:0014286)

Created: 8 Apr 2024, 11:20 p.m.
Last Modified: 8 Apr 2024, 11:20 p.m.
Panel version: 1.39

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported, albeit two share the same variant, c.575A>G (p.Tyr192Cys), founder effect. Functional data.
Created: 31 Mar 2020, 7:28 a.m. | Last Modified: 31 Mar 2020, 7:28 a.m.
Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuropathy, hereditary sensory, type IF, MIM# 615632

Publications

Created: 31 Mar 2020, 7:28 a.m.
Last Modified: 31 Mar 2020, 7:28 a.m.
Panel version: 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Hereditary sensory neuropathy type IF
  • HSAN/SFN
OMIM
609369
Clinvar variants
Variants in ATL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATL3 were set to 24459106; 30666337; 30339187; 24736309

31 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ATL3 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATL3 was added gene: ATL3 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATL3 were set to Hereditary sensory neuropathy type IF; HSAN/SFN