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Ataxia - paediatric

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a reported feature of this condition.
Sources: Other
Created: 16 Jan 2020, 4:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 9, 615809

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Not convinced ataxia is a major feature of this condition.
Created: 27 Dec 2019, 4:05 a.m. | Last Modified: 27 Dec 2019, 4:05 a.m.
Panel Version: 0.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 9, MIM#615809

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 9, 615809
OMIM
102771
Clinvar variants
Variants in AMPD2
Penetrance
None
Panels with this gene

History Filter Activity

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ampd2 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AMPD2 was added gene: AMPD2 was added to Ataxia - paediatric_RMH. Sources: Other Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809 Review for gene: AMPD2 was set to RED