SLC37A4

solute carrier family 37 member 4
OMIM: 602671, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green SLC37A4 in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.7

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 1.13

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 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • 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 1.73

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 1.130

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 1.8
Latest signed off version: v1.2 (18 Feb 2020)

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

Amber SLC37A4 in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 2.92
Latest signed off version: v2.4 (4 Mar 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation, type IIw, OMIM:619525
    Tags
    • Q3_22_rating

    Green SLC37A4 in Primary immunodeficiency


    Version 2.572
    Latest signed off version: v2.1 (24 Feb 2020)

    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 1.70
    Latest signed off version: v1.29 (15 Oct 2020)

    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 1.542

    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 Inborn errors of metabolism


    Version 2.263
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review 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
    Tags
    • Q3_22_MOI

    Red SLC37A4 in Fetal anomalies


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE Additional Gene List
    Phenotypes
    • Glycogen storage disease Ib 232220

    Red SLC37A4 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.240
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SLC37A4 in Severe Paediatric Disorders


    Version 1.127

    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