Cerebellar hypoplasia
Gene: ATAD3A
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
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
Gene: atad3a has been classified as Green List (High Evidence).
Publications for gene: ATAD3A were set to 27640307; 25529582; 28549128; 29898916
Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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
Publications for gene: ATAD3A were set to 27640307; 25529582
Gene: atad3a has been classified as Amber List (Moderate Evidence).
Gene: atad3a has been classified as Green List (High Evidence).
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome 617183 to Harel-Yoon syndrome, 617183
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