Hereditary ataxia with onset in adulthood
Gene: AMPD2The 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
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
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.
Biallelic loss of function variants reported in multiple familiesCreated: 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
Tag Q2_21_phenotype was removed from gene: AMPD2.
Source Expert Review Amber was added to AMPD2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Phenotypes for gene: AMPD2 were changed from Pontocerebellar hyoplasia 9, 615809 to Pontocerebellar hyoplasia 9 OMIM:615809; pontocerebellar hypoplasia type 9 MONDO:0014351
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
Tag Q2_21_phenotype tag was added to gene: AMPD2.
Added phenotypes Pontocerebellar hyoplasia 9, 615809 for gene: AMPD2
Source NHS GMS was added to AMPD2.
Source Wessex and West Midlands GLH was added to AMPD2.
Checked panel against panel constituents. Ready to promote to version 1.
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)