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Severe Paediatric Disorders

Gene: ABCC8

Green List (high evidence)

ABCC8 (ATP binding cassette subfamily C member 8)
EnsemblGeneIds (GRCh38): ENSG00000006071
EnsemblGeneIds (GRCh37): ENSG00000006071
OMIM: 600509, Gene2Phenotype
ABCC8 is in 11 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: ABCC8; Recommended initial gene rating: Green List (high evidence); Phenotypes: Diabetes mellitus, noninsulin-dependent, 125853 (3) | Diabetes mellitus, permanent neonatal, 606176 (3) | Diabetes mellitus, transient neonatal 2, 610374 (3) | Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) | Hypoglycemia of infancy, leucine-sensitive, 240800 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive, Autosomal dominant | ND | Autosomal recessive, Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 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
  • Diabetes mellitus, transient neonatal 2, 610374
  • Hypoglycemia of infancy, leucine-sensitive, 240800
  • Diabetes mellitus, permanent neonatal, 606176
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
  • Diabetes mellitus, noninsulin-dependent, 125853
OMIM
600509
Clinvar variants
Variants in ABCC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ABCC8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ABCC8 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Diabetes mellitus, transient neonatal 2, 610374; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853 for gene: ABCC8

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Diabetes mellitus, transient neonatal 2, 610374; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853 for gene: ABCC8

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Diabetes mellitus, transient neonatal 2, 610374; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, permanent neonatal, 606176; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853 for gene: ABCC8

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hypoglycemia of infancy, leucine-sensitive, 240800; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, transient neonatal 2, 610374 for gene: ABCC8

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ABCC8.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ABCC8. 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: ABCC8 was added gene: ABCC8 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ABCC8 was set to