Genes in panel

Neurodegenerative disorders - adult onset

Gene: AMPD2

Red List (low evidence)

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Pontocerebellar hypoplasia type 9 is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination. Most of the patients were diagnosed at birth or in the first year of life. Red? - as childhood onset. Spastic paraplegia reported in a single family - 2 cousins presented at 14 months of age with delayed walking and a scissors gait. Red as childhood onset?
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).; Hereditary Spastic Paraplegia?; Pontocerebellar hypoplasia 9 (#615809); Pontocerebellar hypolplasia (biallelic)

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Onset at birth or early infancy
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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 Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
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 submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
  • Hereditary Spastic Paraplegia?
  • Pontocerebellar hypoplasia 9 (#615809)
  • Pontocerebellar hypolplasia (biallelic)
OMIM
102771
Clinvar variants
Variants in AMPD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to AMPD2.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to AMPD2.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to AMPD2.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to AMPD2.

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: amended

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Pontocerebellar hypolplasia (biallelic); Hereditary Spastic Paraplegia? for gene: AMPD2

18 Dec 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

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