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  3. ATAD2B
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Intellectual disability

Gene: ATAD2B

Red List (low evidence)
ATAD2B (ATPase family, AAA domain containing 2B)
EnsemblGeneIds (GRCh38): ENSG00000119778
EnsemblGeneIds (GRCh37): ENSG00000119778
OMIM: 615347, Gene2Phenotype
ATAD2B is in 1 panel

1 review

Arina Puzriakova (Genomics England Curator)

PMID: 39313616 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 25 Mar 2025, 4:51 p.m. | Last Modified: 25 Mar 2025, 4:51 p.m.
Panel Version: 8.205
PMID: 39313616 - two unrelated individuals were identified with biallelic variants in the ATAD2B gene. One patient had an affected sibling with the same genotype and a similar phenotype. A fourth individual with biallelic variants was also identified in GeneDx. All had developmental delay or cognitive impairment but otherwise had distinct phenotypes (with exception of the sibs) (summary in Supplementary Table 6).

Given the lack of phenotypic overlap, more evidence is required to implicate ATAD2B and therefore rating Red until more evidence emerges.
Sources: Literature
Created: 25 Mar 2025, 4:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability, MONDO:0001071

Publications

Created: 25 Mar 2025, 4:49 p.m.

Panel version: 8.205

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • intellectual disability, MONDO:0001071
OMIM
615347
Clinvar variants
Variants in ATAD2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Mar 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: ATAD2B was added gene: ATAD2B was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ATAD2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD2B were set to 39313616 Phenotypes for gene: ATAD2B were set to intellectual disability, MONDO:0001071