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Hereditary Neuropathy - complex

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Axonal neuropathy reported in a single family. Neuropathy is not a reported prominent feature of the condition.
Created: 23 Mar 2020, 3:56 a.m. | Last Modified: 23 Mar 2020, 3:56 a.m.
Panel Version: 0.13

Publications

Created: 23 Mar 2020, 3:56 a.m.
Last Modified: 23 Mar 2020, 3:56 a.m.
Panel version: 0.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI
OMIM
102771
Clinvar variants
Variants in AMPD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 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).

13 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AMPD2 was added gene: AMPD2 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD2 were set to 27066553 Phenotypes for gene: AMPD2 were set to Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI