Genes in panel

Neurodegenerative disorders - adult onset

Gene: ATP6AP2

Amber List (moderate evidence)

ATP6AP2 (ATPase H+ transporting accessory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000182220
EnsemblGeneIds (GRCh37): ENSG00000182220
OMIM: 300556, Gene2Phenotype
ATP6AP2 is in 6 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Minimal evidence for link.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

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

Phenotypes
?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 3:05 p.m.

Anthony Dallosso (Bristol Genetics Laboratory)

I don't know

Green gene for Intellectual disability panel. Parkinsonsim and ID phenotype reported. Clinical review of phenotype required.
Created: 23 Apr 2019, 2:42 p.m.

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

Phenotypes
?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Parkinsonism with spasticity, X-linked 300911
  • Mental retardation, X-linked, syndromic, Hedera type 300423
Tags
watchlist
OMIM
300556
Clinvar variants
Variants in ATP6AP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to ATP6AP2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ATP6AP2.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATP6AP2.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ATP6AP2.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: ATP6AP2.

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: ATP6AP2 was added gene: ATP6AP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP2 were set to 23595882 Phenotypes for gene: ATP6AP2 were set to ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423