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Severe Paediatric Disorders

Gene: ADCY5

Green List (high evidence)

ADCY5 (adenylate cyclase 5)
EnsemblGeneIds (GRCh38): ENSG00000173175
EnsemblGeneIds (GRCh37): ENSG00000173175
OMIM: 600293, Gene2Phenotype
ADCY5 is in 12 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: ADCY5; Recommended initial gene rating: Green List (high evidence); Phenotypes: Dyskinesia, familial, with facial myokymia, 606703 (3); Mode of inheritance: 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Dyskinesia, familial, with facial myokymia, 606703
OMIM
600293
Clinvar variants
Variants in ADCY5
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 ADCY5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ADCY5 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ADCY5.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ADCY5. 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: ADCY5 was added gene: ADCY5 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ADCY5 was set to