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Research panel - Severe Paediatric Disorders

Gene: FANCE

Green List (high evidence)
FANCE (Fanconi anemia complementation group E)
EnsemblGeneIds (GRCh38): ENSG00000112039
EnsemblGeneIds (GRCh37): ENSG00000112039
OMIM: 613976, Gene2Phenotype
FANCE is in 20 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: FANCE; Recommended initial gene rating: Green List (high evidence); Phenotypes: Fanconi anemia, complementation group E, 600901 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:19 p.m.
Last Modified: 20 Feb 2020, 5:19 p.m.
Panel version: 0.12

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene FANCE was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene FANCE were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group E, 600901 for gene: FANCE

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group E, 600901 for gene: FANCE

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group E, 600901 for gene: FANCE

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group E, 600901 for gene: FANCE

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to FANCE.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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