Hereditary spastic paraplegia - adult onsetGene: ADAR
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.
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
Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400
Publications for gene: ADAR were set to
Source Yorkshire and North East GLH was added to ADAR.
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)
Source NHS GMS was added to ADAR.
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