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
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
Gene: atad1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ATAD1 were changed from Hyperekplexia 4 to Hyperekplexia 4, 618011
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