Adult onset neurodegenerative disorder
Gene: ATP6AP2

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

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

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.

Created: 23 Apr 2019, 3:05 p.m.

Panel version: 1.106

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

Created: 23 Apr 2019, 2:42 p.m.

Panel version: 1.6

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, OMIM:300911
Mental retardation, X-linked, syndromic, Hedera type, OMIM:300423

Tags

watchlist

OMIM

300556

Clinvar variants

Variants in ATP6AP2

Penetrance

None

Publications

23595882

Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ATP6AP2 were changed from ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423 to ?Parkinsonism with spasticity, X-linked, OMIM:300911; Mental retardation, X-linked, syndromic, Hedera type, OMIM:300423

20 Sep 2019, Gel status: 2