SLC37A4

solute carrier family 37 member 4
OMIM: 602671, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green SLC37A4 in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240
Red SLC37A4 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.21	review	Not set	Sources Emory Genetics Laboratory
Green SLC37A4 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240
Green SLC37A4 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 Emory Genetics Laboratory Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240 Early Onset Inflammatory Bowel Disease
Green SLC37A4 in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Congenital neutropaenia v1.22 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Congenital neutropaenia v1.22 Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240 Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly Congenital defects of phagocyte number or function
Green SLC37A4 in Glycogen storage disease Version 2.4 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240
Green SLC37A4 in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 4.18 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIw, OMIM:619525
Green SLC37A4 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Congenital neutropaenia v1.22 Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240 Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly Congenital defects of phagocyte number or function
Red SLC37A4 in Cytopenia - NOT Fanconi anaemia Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert review Red North West GLH Yorkshire and North East GLH Wessex and West Midlands GLH Expert Review Red NHS GMS London South GLH Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240
Green SLC37A4 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240 Congenital disorder of glycosylation, type IIw, OMIM:619525
Green SLC37A4 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease Ib, OMIM:232220 Glycogen storage disease Ic, OMIM:232240 Congenital disorder of glycosylation, type IIw, OMIM:619525
Red SLC37A4 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE Additional Gene List Phenotypes Glycogen storage disease Ib 232220
Green SLC37A4 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SLC37A4-related congenital disorder of glycosylation with liver dysfunction Glycogen storage disease Ib, OMIM:232220
Red SLC37A4 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green SLC37A4 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Glycogen storage disease Ib, 232220 Glycogen storage disease Ic, 232240