Paroxysmal central nervous system disorders
Gene: ATAD1
ATAD1 (ATPase family, AAA domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000138138
EnsemblGeneIds (GRCh37): ENSG00000138138
OMIM: 614452, Gene2Phenotype
ATAD1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000138138
EnsemblGeneIds (GRCh37): ENSG00000138138
OMIM: 614452, Gene2Phenotype
ATAD1 is in 4 panels
4 reviews
Robyn Labrum (UCLH NHS Trust)
very severe phenotype ? Fits with this indication?Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97
Penny Clouston (Oxford)
Green if including Hyperekplexia on this panel.Created: 23 Sep 2019, 12:51 p.m. | Last Modified: 23 Sep 2019, 12:51 p.m.
Panel Version: 0.95
Rebecca Foulger (Genomics England curator)
Comment on list classification: Upgraded ATAD1 from Amber to Green to match Green rating of other Hyperkeplexia genes (GLRA1, GLRB, SLC6A5). A comment from Robyn Labrum (University College London Hospitals) on behalf of London North GLH for the GMS Neurology specialist test group (received via email, September 30th 2019) notes that Hyperekplexia genes should be included on the panel if the clinicians agree.Created: 1 Oct 2019, 12:28 p.m. | Last Modified: 21 Oct 2019, 9:24 a.m.
Panel Version: 0.169
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. This rating is for a gene (ATAD1) previously added to the panel by West Midlands, Oxford and Wessex GLH. Suggested rating: Amber.Created: 23 Sep 2019, 3:57 p.m. | Last Modified: 23 Sep 2019, 3:57 p.m.
Panel Version: 0.98
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.Created: 23 Sep 2019, 12:53 p.m. | Last Modified: 23 Sep 2019, 12:53 p.m.
Panel Version: 0.96
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
Hyperekplexia, include?Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 4, 618011
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Hyperekplexia 4, 618011
- OMIM
- 614452
- Clinvar variants
- Variants in ATAD1
- Penetrance
- None
- Panels with this gene
History Filter Activity
1 Oct 2019, Gel status: 3
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: atad1 has been classified as Green List (High Evidence).
2 Sep 2019, Gel status: 2
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to ATAD1.
2 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ATAD1 was added gene: ATAD1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Wessex and West Midlands GLH,Expert Review Amber Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, 618011