Genes in panel

Hereditary neuropathy

Gene: ATL3

Green List (high evidence)

ATL3 (atlastin GTPase 3)
EnsemblGeneIds (GRCh38): ENSG00000184743
EnsemblGeneIds (GRCh37): ENSG00000184743
OMIM: 609369, Gene2Phenotype
ATL3 is in 5 panels

7 reviews

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Autosomal dominant HSN, several families described . Previous recessive entry was an error
Created: 16 May 2019, 12:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Natalie Forrester (SWGLH - Bristol Genetics)

I don't know

Literature search 6th May 2016, 2 articles found PMID: 24459106 c.575A>G (p.Tyr192Cys) heterozygous segregated with affected family members in a German family and Spanish family with hereditary sensory and autonomic neuropathies type 1, Haplotype analysis at the ATL3 locus of both families suggested that they share the same alleles compatible with identity by descent; PMID:24736309 - report of a Bosnian family, in which father and son with hereditary sensory neuropathy type 1 were heterozygous for ATL3 c.1013C>G p.Pro338Arg, that was not found in unaffected son
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Richard Scott (Genomics England Curator)

Comment when marking as ready: 24459106 and 24736309 both demonstrate monoallelic (AD) inheritance
Created: 8 Jul 2016, 3:22 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: The literature reports and OMIM state monoallelic inheritance (variants found in a heterozygous state), but both reviewers suggested biallelic.
Created: 6 May 2016, 8:26 a.m.
Comment on list classification: A reviewer added the gene, and a second reviewer rated this green.
Created: 6 May 2016, 8:24 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
OMIM
609369
Clinvar variants
Variants in ATL3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ATL3 were changed from Literature search 6th May 2016, 2 articles found; PMID: 24459106 c.575A>G (p.Tyr192Cys) heterozygous segregated with affected family members in a German family and Spanish family with hereditary sensory and autonomic neuropathies type 1, Haplotype analysis at the ATL3 locus of both families suggested that they share the same alleles compatible with identity by descent; PMID: 24736309 - report of a Bosnian family, in which father and son with hereditary sensory neuropathy type 1 were heterozygous for ATL3 c.1013C>G p.Pro338Arg, that was not found in unaffected son. to 24736309; 24459106

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ATL3.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATL3.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ATL3. Rating Changed from Green List (high evidence) to Green List (high evidence)

8 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jul 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for ATL3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ATL3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 May 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ATL3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 May 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ATL3 were set to Literature search 6th May 2016, 2 articles found; PMID: 24459106 c.575A>G (p.Tyr192Cys) heterozygous segregated with affected family members in a German family and Spanish family with hereditary sensory and autonomic neuropathies type 1, Haplotype analysis at the ATL3 locus of both families suggested that they share the same alleles compatible with identity by descent; PMID: 24736309 - report of a Bosnian family, in which father and son with hereditary sensory neuropathy type 1 were heterozygous for ATL3 c.1013C>G p.Pro338Arg, that was not found in unaffected son.

6 May 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ATL3 were set to Literature search 6th May 2016, 2 articles found; PMID: 24459106; PMID: 24736309 - report of a Bosnian family, in which father and son with hereditary sensory neuropathy type 1 were heterozygous for ATL3 c.1013C>G; p.Pro338Arg, that was not found in unaffected son.

6 May 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ATL3 were set to PMID: 24459106; 24736309

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

ATL3 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

ATL3 was created by MReilly-925