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Newborns main panel

Gene: SKIV2L

Green List (high evidence)
SKIV2L (Ski2 like RNA helicase)
EnsemblGeneIds (GRCh38): ENSG00000204351
EnsemblGeneIds (GRCh37): ENSG00000204351
OMIM: 600478, Gene2Phenotype
SKIV2L is in 11 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Old gene symbol used in pipeline.

Additional Information: Please include the latest HGNC symbol (SKIC2) on the report.
Created: 26 Sep 2024, 4:11 p.m. | Last Modified: 26 Sep 2024, 4:11 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 4:11 p.m.
Last Modified: 26 Sep 2024, 4:11 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.
Panel Version: 0.250
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 29527791 - 31 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.250

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: SKIV2L.

25 Oct 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag new-gene-name tag was added to gene: SKIV2L.

25 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: SKIV2L. Tag SKIC2 was removed from gene: SKIV2L.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Trichohepatoenteric syndrome 2 for gene: SKIV2L

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SKIV2L. Added phenotypes Trichohepatoenteric syndrome 2 for gene: SKIV2L Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SKIV2L. Added phenotypes Trichohepatoenteric syndrome 2 for gene: SKIV2L Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to SKIV2L. Rating Changed from Amber List (moderate evidence) to No List (delete)

27 Mar 2023, Gel status: 2

Added Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: SKIV2L. Tag SKIC2 tag was added to gene: SKIV2L.

9 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: SKIV2L was added gene: SKIV2L was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2