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Intellectual disability

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 11 panels

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note this recent publication describing complex structural rearrangements at this locus as causative of a neurodevelopmental syndrome: I am not sure if you need to adjust anything to flag these as well as SNVs.
Created: 2 Feb 2020, 3:33 a.m. | Last Modified: 2 Feb 2020, 3:33 a.m.
Panel Version: 3.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Harel-Yoon syndrome 617183

Publications

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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function, dom neg
Created: 27 Jul 2017, 5:07 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Richard Scott (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: Comment on list classification: Report of multiple, recurrent de novo monoallelic mutations in PMID 27640307 - sufficient evidence for inclusion One family reported with biallelic deletion (also in PMID 27640307) - await further evidence
Created: 23 Feb 2017, 5:54 p.m.
Comment on list classification: Report of multiple, recurrent de novo monoallelic mutations in PMID 27640307 - sufficient evidence for inclusion One family reported with biallelic deletion (also in PMID 27640307) - await further evidence
Created: 23 Feb 2017, 5:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
617183

Publications

History Filter Activity

8 Mar 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ATAD3A were set to 27640307

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

24 Feb 2017, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

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

24 Feb 2017, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

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

24 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ATAD3A were set to Harel-Yoon syndrome 617183

23 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Feb 2017, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for ATAD3A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

23 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Feb 2017, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

ATAD3A was added to Intellectual disabilitypanel. Sources: Expert list

23 Feb 2017, Gel status: 0

Created

Richard Scott (Genomics England Curator)

ATAD3A was created by richardhywel