Hereditary spastic paraplegia - childhood onsetGene: ADAR
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 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: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Aicardi-Goutieres syndrome 6, 615010, autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400
Onset in infancy or early childhood
Created: 14 Jan 2019, 3:58 p.m.
Publications for gene: ADAR were set to 25243380
Source Yorkshire and North East GLH was added to ADAR.
Source NHS GMS was added to ADAR.
Source London North GLH was added to ADAR.
Added phenotypes Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR
Arianna Tucci: Onset in infancy or early chil
gene: ADAR was added gene: ADAR was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAR were set to 25243380 Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010