SKIV2L

Ski2 like RNA helicase
OMIM: 600478, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green SKIV2L in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.44	review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Trichohepatoenteric syndrome 2 614602 Tags new-gene-name
Green SKIV2L in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.75	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Trichohepatoenteric syndrome 2, 614602 Trichohepatoenteric Syndrome Inflammatory Bowel Disease (Very Early Onset) Tags new-gene-name
Green SKIV2L in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH GOSH PID v.8.0 NHS GMS North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green ESID Registry 20171117 GOSH PID v.8.0 Phenotypes Trichohepatoenteric syndrome 2,614602 Immune dysfunction Trichohepatoenteric syndrome Tags new-gene-name
Green SKIV2L in Intestinal failure or congenital diarrhoea Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Trichohepatoenteric syndrome 2, OMIM:614602 Tags new-gene-name
Green SKIV2L in Primary immunodeficiency or monogenic inflammatory bowel disease Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH Expert Review Green ESID Registry 20171117 GOSH PID v.8.0 Phenotypes Trichohepatoenteric syndrome 2,614602 Trichohepatoenteric syndrome Immune dysfunction Tags early-onset new-gene-name
Green SKIV2L in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Trichohepatoenteric syndrome 2 (Other metabolic disorders) Infantile enterocolitis & monogenic inflammatory bowel disease Tags new-gene-name
Green SKIV2L in Likely inborn error of metabolism - targeted testing not possible Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Infantile enterocolitis & monogenic inflammatory bowel disease Trichohepatoenteric syndrome 2 (Other metabolic disorders) Tags new-gene-name
Red SKIV2L in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes TRICHOHEPATOENTERIC SYNDROME 2 Tags new-gene-name
Green SKIV2L in DDG2P Version 4.1 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRICHOHEPATOENTERIC SYNDROME 2 615602 Tags new-gene-name
Red SKIV2L in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Trichohepatoenteric syndrome 2, 614602 Tags new-gene-name
Red SKIV2L in Childhood onset dystonia, chorea or related movement disorder Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH Tags new-gene-name
Green SKIV2L in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Trichohepatoenteric syndrome 2, 614602 Tags new-gene-name