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Research panel - Severe Paediatric Disorders

Gene: HSD17B4

Green List (high evidence)
HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)
EnsemblGeneIds (GRCh38): ENSG00000133835
EnsemblGeneIds (GRCh37): ENSG00000133835
OMIM: 601860, Gene2Phenotype
HSD17B4 is in 13 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: HSD17B4; Recommended initial gene rating: Green List (high evidence); Phenotypes: D-bifunctional protein deficiency, 261515 (3) | Perrault syndrome 1, 233400 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:20 p.m.
Last Modified: 20 Feb 2020, 5:20 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 HSD17B4 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene HSD17B4 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes D-bifunctional protein deficiency, 261515; Perrault syndrome 1, 233400 for gene: HSD17B4

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes D-bifunctional protein deficiency, 261515; Perrault syndrome 1, 233400 for gene: HSD17B4

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes D-bifunctional protein deficiency, 261515; Perrault syndrome 1, 233400 for gene: HSD17B4

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes D-bifunctional protein deficiency, 261515; Perrault syndrome 1, 233400 for gene: HSD17B4

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to HSD17B4.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to HSD17B4. 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: HSD17B4 was added gene: HSD17B4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: HSD17B4 was set to