Genes in panel

Hereditary ataxia - adult onset

Gene: AMPD2

Amber List (moderate evidence)

AMPD2 (adenosine monophosphate deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000116337
EnsemblGeneIds (GRCh37): ENSG00000116337
OMIM: 102771, Gene2Phenotype
AMPD2 is in 14 panels

4 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
Comment on phenotypes: Spastic paraplegia 63 OMIM:615686 from homozygous frameshift reported in single family (Novarino et al, 2014).
Created: 26 May 2021, 8:14 a.m. | Last Modified: 26 May 2021, 8:14 a.m.
Panel Version: 2.61
The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with congenital onset of ataxia.
Created: 26 May 2021, 8:09 a.m. | Last Modified: 26 May 2021, 8:09 a.m.
Panel Version: 2.60

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Congenital onset.
Created: 13 Sep 2020, 8:21 a.m. | Last Modified: 13 Sep 2020, 8:21 a.m.
Panel Version: 2.9

Phenotypes
Pontocerebellar hyoplasia 9, 615809

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Biallelic loss of function variants reported in multiple families
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hyoplasia 9, 615809

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

History Filter Activity

9 Mar 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_phenotype was removed from gene: AMPD2.

9 Mar 2022, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to AMPD2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

26 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: AMPD2 were changed from Pontocerebellar hyoplasia 9, 615809 to Pontocerebellar hyoplasia 9 OMIM:615809; pontocerebellar hypoplasia type 9 MONDO:0014351

26 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: AMPD2 were changed from Pontocerebellar hyoplasia 9, 615809; Pontocerebellar hypoplasia 9 (#615809); Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014). to Pontocerebellar hyoplasia 9, 615809

26 May 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: AMPD2.

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pontocerebellar hyoplasia 9, 615809 for gene: AMPD2

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to AMPD2.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to AMPD2.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

15 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: AMPD2 was added gene: AMPD2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to 24482476 Phenotypes for gene: AMPD2 were set to Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).; Pontocerebellar hypoplasia 9 (#615809)