Severe microcephaly
Gene: ATP9A
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least four variants reported in four unrelated families with a neurodevelopmental disorder (PMIDs: 34379057, 34764295). Model Atp9a−/− mice had neurobehavioural disabilities reminiscent to the behavioral patterns in the publications quoted here (PMID: 27626380). Severe microcephaly was not a consistant feature of individuals carrying the ATP9A variants reported so far (PMIDs: 34379057, 34764295).Created: 23 Nov 2021, 1:15 p.m. | Last Modified: 23 Nov 2021, 1:15 p.m.
Panel Version: 2.271
Publications
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: LiteratureCreated: 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
Phenotypes for gene: ATP9A were changed from Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms to Neurodevelopmental delay; Postnatal microcephaly; Failure to thrive; Gastrointestinal symptoms; Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242
Publications for gene: ATP9A were set to 34379057; 34764295
Publications for gene: ATP9A were set to 34379057
Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843
Gene: atp9a has been classified as Amber List (Moderate Evidence).
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