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Research panel - Severe Paediatric Disorders

Gene: ETFDH

Green List (high evidence)
ETFDH (electron transfer flavoprotein dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 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: ETFDH; Recommended initial gene rating: Green List (high evidence); Phenotypes: Glutaric acidemia IIC, 231680 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:18 p.m.
Last Modified: 20 Feb 2020, 5:18 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 ETFDH was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ETFDH were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Glutaric acidemia IIC, 231680 for gene: ETFDH

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Glutaric acidemia IIC, 231680 for gene: ETFDH

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Glutaric acidemia IIC, 231680 for gene: ETFDH

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Glutaric acidemia IIC, 231680 for gene: ETFDH

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ETFDH.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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