Cerebellar hypoplasia

Gene: ATAD3A

Green List (high 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: Upgraded from Amber to Green, as 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, 2:29 p.m.
Panel Version: 1.52
Comment on mode of inheritance: Changed MOI from 'Both mono- and biallelic' to 'Biallelic' only.

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.

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, 2:24 p.m.
Panel Version: 1.51

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: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: atad3a has been classified as Green List (High Evidence).

5 Jul 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ATAD3A were set to 27640307; 25529582; 28549128; 29898916

5 Jul 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

5 Jul 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, 617183 to Harel-Yoon syndrome, OMIM:617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810

8 Mar 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ATAD3A were set to 27640307; 25529582

8 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

8 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: atad3a has been classified as Green List (High Evidence).

8 Mar 2019, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ATAD3A were set to 27640307

8 Mar 2019, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome 617183 to Harel-Yoon syndrome, 617183

29 Jan 2019, Gel status: 0

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

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

gene: ATAD3A was added gene: ATAD3A was added to Cerebellar hypoplasia. Sources: Expert Review Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 27640307 Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome 617183 Review for gene: ATAD3A was set to GREEN gene: ATAD3A was marked as current diagnostic