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Mendeliome

Gene: ATAD2B

Amber List (moderate evidence)

ATAD2B (ATPase family, AAA domain containing 2B)
EnsemblGeneIds (GRCh38): ENSG00000119778
EnsemblGeneIds (GRCh37): ENSG00000119778
OMIM: 615347, Gene2Phenotype
ATAD2B is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

3 families including 2 siblings
1 fam is hom for a highly conserved missense

Amber because of the lack of specific phenotypes:
Abnormality of the nervous system and Abnormality of the eye
Sources: Literature
Created: 3 Oct 2024, 1:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder MONDO:0700092, ATAD2B-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, ATAD2B-related
OMIM
615347
Clinvar variants
Variants in ATAD2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: atad2b has been classified as Amber List (Moderate Evidence).

3 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: atad2b has been classified as Amber List (Moderate Evidence).

3 Oct 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: ATAD2B was added gene: ATAD2B was added to Mendeliome. 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 neurodevelopmental disorder MONDO:0700092, ATAD2B-related Review for gene: ATAD2B was set to AMBER gene: ATAD2B was marked as current diagnostic