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This Panel is marked as Retired

Research panel - Severe Paediatric Disorders
Gene: SLC16A1

SLC16A1 (solute carrier family 16 member 1)
EnsemblGeneIds (GRCh38): ENSG00000155380
EnsemblGeneIds (GRCh37): ENSG00000155380
OMIM: 600682, Gene2Phenotype
SLC16A1 is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SLC16A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Erythrocyte lactate transporter defect, 245340 (3) | Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3) | Monocarboxylate transporter 1 deficiency, 616095 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Erythrocyte lactate transporter defect, 245340
Hyperinsulinemic hypoglycemia, familial, 7, 610021
Monocarboxylate transporter 1 deficiency, 616095

OMIM

Clinvar variants

Variants in SLC16A1

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SLC16A1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hyperinsulinemic hypoglycemia, familial, 7, 610021; Erythrocyte lactate transporter defect, 245340; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC16A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC16A1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC16A1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SLC16A1 was added gene: SLC16A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC16A1 was set to