SLC37A4

solute carrier family 37 member 4
OMIM: 602671, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Green SLC37A4 in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.8

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 1.42

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 1.74

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 1.141

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 2.3
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 4.191
    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 3.21
    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 1.613

    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 4.131
    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 3.136
    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 3.79
    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 3.71
    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 1.182

    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