Dystonia - complex
Gene: RNU7-1
Phenotypes
Aicardi-Goutieres syndrome 9, MIM# 619487
Review originally submitted by Ming Wong
- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: LiteratureCreated: 4 Jan 2021, 5:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi–Goutières syndrome-like
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag non-coding gene tag was added to gene: RNU7-1.
Gene: rnu7-1 has been classified as Green List (High Evidence).
Phenotypes for gene: RNU7-1 were changed from Aicardi–Goutières syndrome-like to Aicardi-Goutieres syndrome 9, MIM# 619487
Gene: rnu7-1 has been classified as Green List (High Evidence).
gene: RNU7-1 was added gene: RNU7-1 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU7-1 were set to 33230297 Phenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like Review for gene: RNU7-1 was set to GREEN gene: RNU7-1 was marked as current diagnostic