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  3. RNU7-1
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Cerebral Palsy

Gene: RNU7-1

Amber List (moderate evidence)
RNU7-1 (RNA, U7 small nuclear 1)
EnsemblGeneIds (GRCh38): ENSG00000238923
EnsemblGeneIds (GRCh37): ENSG00000238923
RNU7-1 is in 8 panels

1 review

Clare van Eyk (University of Adelaide)

I don't know

Two individuals with biallelic LP/P variants in RNU7-1 reported in a monocentric cohort study (PMID: 39213953). Both have recurrent RNU7-1 40_47DEL.

One with spastic quadriplegia, epilepsy, DD, hypomyelination, cerebral atrophy, old ishemic lesions, calcifications on CT.

Other with peripheral hypertonia, axial hypotonia, dystonia, calcifications, PVL, delayed myelination.
Sources: Literature
Created: 3 Sep 2024, 3:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutières syndrome 9, MIM#619487

Publications

Created: 3 Sep 2024, 3:47 a.m.

Panel version: 1.367

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Aicardi-Goutières syndrome 9, MIM#619487
Clinvar variants
Variants in RNU7-1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnu7-1 has been classified as Amber List (Moderate Evidence).

24 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnu7-1 has been classified as Amber List (Moderate Evidence).

3 Sep 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Clare van Eyk (University of Adelaide)

gene: RNU7-1 was added gene: RNU7-1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU7-1 were set to PMID: 39213953 Phenotypes for gene: RNU7-1 were set to Aicardi-Goutières syndrome 9, MIM#619487 Review for gene: RNU7-1 was set to AMBER