Hereditary spastic paraplegia

Gene: ADAR

Green List (high evidence)

ADAR (adenosine deaminase, RNA specific)
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 21 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Biallelic mutations can cause a phenotype of mainly spastic paraplegia (25243380)
Created: 27 Mar 2017, 11:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 6, 615010

Publications

History Filter Activity

27 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Mar 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

ADAR was added to Hereditary spastic paraplegiapanel. Sources: Expert Review

27 Mar 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

ADAR was created by arianna