Hereditary spastic paraplegia - adult onset

Gene: ADAR

Green List (high evidence)

ADAR (adenosine deaminase, RNA specific)
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 20 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Childhood onset. Small number of patients present with pure spastic paraplegic. Spasticity is a common feature of patients with Aicardi-Goutieres syndrome 6.
Created: 3 May 2019, 1:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.

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

Green List (high evidence)

victoria: Patients with dyschromatosis symmetrica hereditaria (DSH;127400) have pinpoint, pea-sized hyperpigmented and hypopigmented macules on the backs of their hands and the tops of their feet. The face is spared apart from a few scattered small discrete pigmented macules. These abnormalities are asymptomatic and do not affect the general health of the patient. Aicardi-Goutieres syndrome 6: intracranial calcification and severe developmental delay in all, leukodystrophy in most, and markedly elevated cerebrospinal fluid (CSF) interferon-alpha. Mild-to-moderate global developmental delay apparent in early infancy, limb tremor and stiffening, rigidity, loss of previous motor and other developmental skills, and severe dystonia or pure HSP in some cases.. Several publications.
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ADAR were set to

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ADAR.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ADAR. Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400 for gene: ADAR Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ADAR.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ADAR was added gene: ADAR was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ADAR was set to