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  3. ATAD1
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Arthrogryposis

Gene: ATAD1

Amber List (moderate evidence)
ATAD1 (ATPase family, AAA domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000138138
EnsemblGeneIds (GRCh37): ENSG00000138138
OMIM: 614452, Gene2Phenotype
ATAD1 is in 4 panels

2 reviews

Zerin Hyder (Genomics England)

I don't know

Piard et al identified a homozygous frameshift mutation in the last exon of ATAD1 in three siblings who presented with a severe, lethal encephalopathy associated with stiffness and arthrogryposis. Association in other reports with contractures and hypertonia but not specifically stated if congenital in onset or progressive.
Created: 27 Nov 2019, 4:37 p.m. | Last Modified: 27 Nov 2019, 4:37 p.m.
Panel Version: 2.84

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 4

Publications

Created: 27 Nov 2019, 4:37 p.m.
Last Modified: 27 Nov 2019, 4:37 p.m.
Panel version: 2.84

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted ATAD1 from Green to Amber following review and advice from Zerin Hyder (Genomics England Clinical Team). The AMC phenotype is not yet well enough described for inclusion on the panel.
Created: 27 Nov 2019, 9:07 p.m. | Last Modified: 27 Nov 2019, 9:07 p.m.
Panel Version: 2.88
Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64
Created: 26 Nov 2019, 3:16 p.m.
Last Modified: 26 Nov 2019, 3:16 p.m.
Panel version: 2.64

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hyperekplexia 4, 618011
OMIM
614452
Clinvar variants
Variants in ATAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: atad1 has been classified as Amber List (Moderate Evidence).

26 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ATAD1 were changed from Hyperekplexia 4 to Hyperekplexia 4, 618011

26 Nov 2019, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: ATAD1 was added gene: ATAD1 was added to Arthrogryposis. Sources: Literature,Expert Review Green Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD1 were set to 29659736; 28180185; 29390050 Phenotypes for gene: ATAD1 were set to Hyperekplexia 4