Cerebellar hypoplasia
Gene: ATAD3AEnsemblGeneIds (GRCh38): ENSG00000197785
EnsemblGeneIds (GRCh37): ENSG00000197785
OMIM: 612316, Gene2Phenotype
ATAD3A is in 17 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Harel-Yoon syndrome, OMIM:617183
- Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
- OMIM
- 612316
- Clinvar variants
- Variants in ATAD3A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- DDG2P
- Cerebellar hypoplasia
- Optic neuropathy
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: atad3a has been classified as Green List (High Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ATAD3A were set to 27640307; 25529582; 28549128; 29898916
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
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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: ATAD3A were set to 27640307; 25529582
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: atad3a has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: atad3a has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: ATAD3A were set to 27640307
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome 617183 to Harel-Yoon syndrome, 617183
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