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Severe microcephaly

Gene: ATP9A

Amber List (moderate evidence)

ATP9A (ATPase phospholipid transporting 9A (putative))
EnsemblGeneIds (GRCh38): ENSG00000054793
EnsemblGeneIds (GRCh37): ENSG00000054793
OMIM: 609126, Gene2Phenotype
ATP9A is in 2 panels

1 review

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Rating Amber, awaiting further cases/clinical evidence.
Created: 6 Jul 2021, 3:43 p.m. | Last Modified: 6 Jul 2021, 3:43 p.m.
Panel Version: 2.216
Vogt et al. 2021 report on 3 individuals from 2 unrelated consanguineous families with different homozygous truncating variants in ATP9A, presenting with DD/ID of variable degree (2 mild, 1 severe), postnatal microcephaly (OFC range: −2.33 SD to −3.58 SD), failure to thrive, and gastrointestinal symptoms. Patient-derived fibroblasts showed reduced expression of ATP9A, and consistent with previous findings also overexpression of interacting partners, ARPC3 and SNX3.
Sources: Literature
Created: 6 Jul 2021, 3:43 p.m. | Last Modified: 6 Jul 2021, 3:46 p.m.
Panel Version: 2.216

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms

Publications

  • http://dx.doi.org/10.1136/jmedgenet-2021-107843

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental delay
  • Postnatal microcephaly
  • Failure to thrive
  • Gastrointestinal symptoms
OMIM
609126
Clinvar variants
Variants in ATP9A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Sep 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843

6 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: atp9a has been classified as Amber List (Moderate Evidence).

6 Jul 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: ATP9A was added gene: ATP9A was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843 Phenotypes for gene: ATP9A were set to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms Review for gene: ATP9A was set to AMBER