1. Panels
  2. Intellectual disability
  3. ATP6AP1
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: ATP6AP1

Amber List (moderate evidence)
ATP6AP1 (ATPase H+ transporting accessory protein 1)
EnsemblGeneIds (GRCh38): ENSG00000071553
EnsemblGeneIds (GRCh37): ENSG00000071553
OMIM: 300197, Gene2Phenotype
ATP6AP1 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Unclear whether other ATP6AP1 variants are associated with a neurological phenotype. Amber rating in view of the mild ID phenotype, as a more significant, or consistent pattern, of DD/ID is required (added to watchlist).
Created: 28 Jul 2020, 9:53 a.m. | Last Modified: 28 Jul 2020, 9:53 a.m.
Panel Version: 3.203
Not associated with any phenotype in G2P.

Jansen et al. (2016) (PMID: 27231034) reported 11 male patients with immunodeficiency as well as hepatic and gastric problems, due to X-linked ATP6AP1 deficiency. Of these, 6 individuals from 3 unrelated families harbouring the same variant (c.1036G>A, p.E346K) presented a more severe phenotype associated with additional neurological symptoms such as epilepsy, mild ID, and behaviour abnormalities.

Subsequent studies identified two further patients harbouring p.L181R and p.Y217N variants, with additional connective tissue manifestations; however, no neurocognitive deficits or epilepsy were noted in either case (PMID: 29396028; 29192153).
Created: 28 Jul 2020, 9:46 a.m. | Last Modified: 28 Jul 2020, 9:46 a.m.
Panel Version: 3.202

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Immunodeficiency, 300972; Hepatopathy; Intellectual disability; Cutis laxa; Epilepsy

Publications

Created: 28 Jul 2020, 9:46 a.m.
Last Modified: 28 Jul 2020, 9:46 a.m.
Panel version: 3.202

Zornitza Stark (Australian Genomics)

Green List (high evidence)

11 males from 6 unrelated families with primarily an immunodeficiency disorder; six patients from 3 families who carried the same variant (E346K) had neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities
Sources: Expert list
Created: 29 Jan 2020, 9:07 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Immunodeficiency 47, MIM#300972

Publications

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

Created: 29 Jan 2020, 9:07 a.m.

Panel version: 3.0

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 47, MIM#300972
Tags
watchlist
OMIM
300197
Clinvar variants
Variants in ATP6AP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: atp6ap1 has been classified as Amber List (Moderate Evidence).

28 Jul 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: ATP6AP1.

29 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ATP6AP1 was added gene: ATP6AP1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP1 were set to 27231034 Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#300972 Review for gene: ATP6AP1 was set to GREEN gene: ATP6AP1 was marked as current diagnostic