DDG2P
Gene: SNORD118

SNORD118 (small nucleolar RNA, C/D box 118)
EnsemblGeneIds (GRCh38): ENSG00000200463
EnsemblGeneIds (GRCh37): ENSG00000200463
OMIM: 616663, Gene2Phenotype
SNORD118 is in 9 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Leukoencephalopathy with cerebral calcification & cysts, OMIM:614561 is strong. The allelic requirement, mutation consequence and cross cutting modifier are biallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 27571260;27793341).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with cerebral calcification & cysts, OMIM:614561

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is now 'both RD and IF' for Leukoencephalopathy with cerebral calcification & cysts.
Created: 3 Oct 2019, 12:28 p.m. | Last Modified: 3 Oct 2019, 12:28 p.m.

Panel Version: 1.126

Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.

Panel Version: 1.76

Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Leukoencephalopathy with cerebral calcification & cysts.
Created: 29 Jan 2019, 12:14 p.m.

Original DDG2P rating for Leukoencephalopathy with cerebral calcification & cysts: both DD and IF. DDG2P Mutation consequence: loss of function; DDG2P allelic requirement: biallelic.
Created: 19 Nov 2018, 11:31 a.m. | Last Modified: 3 Oct 2019, 12:29 p.m.

Panel Version: 1.126

Created: 19 Nov 2018, 11:31 a.m.
Last Modified: 3 Oct 2019, 12:29 p.m.
Panel version: 1.126

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

Leukoencephalopathy with cerebral calcification & cysts 614561

Tags

locus-type-small-nucleolar

OMIM

616663

Clinvar variants

Variants in SNORD118

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Jul 2024, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-small-nucleolar tag was added to gene: SNORD118.

3 Oct 2019, Gel status: 3