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Fetal anomalies

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Samantha Doyle (The National Maternity Hospital)

Green List (high evidence)

Previously green on Fetal anomaly panel and red from 2019. A cause of IUGR from the literature and given that IUGR is now an indication for R21, this should be green. Green on the following panels: Infantile enterocolitis & monogenic inflammatory bowel disease, Gastrointestinal epithelial barrier disorders, Intestinal failure or congenital diarrhoea, Primary immunodeficiency or monogenic inflammatory bowel disease, Undiagnosed metabolic disorders, Likely inborn error of metabolism - targeted testing not possible, Severe Paediatric Disorders. PMID:27431780 - A case of a Chinese boy with IUGR (<3rd centile), intractible diarrhoea, dysmorphism, wooly hair, cirrhosis and ascites. PMID:22444670 - six individuals with SD/THE Syndrome presented with IUGR, mean birth weight was 1.46kg. TTC37 is the other gene associated with this condition and it is Green on the fetal anomaly panel. Green
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichohepatoenteric syndrome 2, OMIM:614602

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Sarah Leigh (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2.
Created: 30 Jun 2022, 3:39 p.m. | Last Modified: 30 Jun 2022, 4:05 p.m.
Panel Version: 1.871
Created: 30 Jun 2022, 3:39 p.m.
Last Modified: 30 Jun 2022, 4:05 p.m.
Panel version: 1.871

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SKIV2L gene rating from Green to Red.
Created: 30 Apr 2019, 8:24 a.m.
DDG2P rating in original PAGE list: Confirmed for TRICHOHEPATOENTERIC SYNDROME 2
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.228

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: SKIV2L. Tag Q3_24_NHS_review was removed from gene: SKIV2L.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to SKIV2L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2, OMIM:614602; TRICHOHEPATOENTERIC SYNDROME 2 to Trichohepatoenteric syndrome 2, OMIM:614602

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: SKIV2L. Tag Q3_24_NHS_review tag was added to gene: SKIV2L.

29 Aug 2024, Gel status: 2

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Amber was added to SKIV2L. Source NHS GMS was added to SKIV2L. Added phenotypes Trichohepatoenteric syndrome 2, OMIM:614602 for gene: SKIV2L Publications for gene: SKIV2L were updated from to 22444670; 27431780 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

30 Jun 2022, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

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

30 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to SKIV2L. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SKIV2L was added gene: SKIV2L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2