Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: ATAD3A

Amber List (moderate evidence)

ATAD3A (ATPase family, AAA domain containing 3A)
EnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 15 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Louise Daugherty (Genomics England Curator)

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.

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Cerebellar hypoplasia reported in 2/7 families (PMID:27640307).
Sources: Expert Review
Created: 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

History Filter Activity

5 Jul 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: ATAD3A.

5 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: atad3a has been classified as Amber List (Moderate Evidence).

5 Jul 2021, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

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