Ataxia and cerebellar anomalies - narrow panel
Gene: ATAD3A
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Comment on list classification: There is enough evidence to promote this gene to Green at the next GMS panel update - the number of unrelated families (at least 7) with cerebellar/pontocerebellar hypoplasia and biallelic SNVs in ATAD3A reaches the threshold for inclusion on this panel.Created: 5 Jul 2021, 2:29 p.m. | Last Modified: 5 Jul 2021, 2:32 p.m.
Panel Version: 2.219
ATAD3A is associated with Harel-Yoon syndrome (MIM# 617183) with both dominant and recessive patterns of inheritance. However, only families with the biallelic form displayed cerebellar atrophy (PMID: 27640307; 32607449; 33845882). Brain MRI results have been normal in heterozygous cases to date (MOI set to 'Biallelic' only).
Furthermore, biallelic variants in ATAD3A are also associated with another phenotype comprising neonatal lethal pontocerebellar hypoplasia (MIM# 618810) - at least 13 unrelated families in literature, including 2 families with SNVs (PMID: 29053797; 31727539) and 11 families with deletions affecting ATAD3A (PMID: 27640307; 28549128; 29053797; 33845882)Created: 5 Jul 2021, 2:17 p.m. | Last Modified: 5 Jul 2021, 2:33 p.m.
Panel Version: 2.219
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Harel-Yoon syndrome, OMIM:617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
Publications
Comment on list classification: Based on current information in the literature in view of the number of cases with Cerebellar hypoplasia verses the there is not enough evidence to support gene-disease association rating of this gene to Green. Added watchlist tag.Created: 8 Mar 2019, 3:10 p.m.
Cerebellar hypoplasia reported in 2/7 families (PMID:27640307).
Sources: Expert ReviewCreated: 29 Jan 2019, 2:39 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Harel-Yoon syndrome 617183
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: ATAD3A.
Source Expert Review Green was added to ATAD3A. Source NHS GMS was added to ATAD3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: ATAD3A.
Gene: atad3a has been classified as Amber List (Moderate Evidence).
gene: ATAD3A was added gene: ATAD3A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green,Expert Review Mode of inheritance for gene: ATAD3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307; 28549128; 29053797; 31727539; 32607449; 33845882 Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, OMIM:617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810