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Research panel - Severe Paediatric Disorders

Gene: HADHA

Green List (high evidence)
HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA 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: HADHA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Fatty liver, acute, of pregnancy, 609016 (3) | HELLP syndrome, maternal, of pregnancy, 609016 (3) | LCHAD deficiency, 609016 (3) | Trifunctional protein deficiency, 609015 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Fatty liver, acute, of pregnancy, 609016
  • LCHAD deficiency, 609016
  • Trifunctional protein deficiency, 609015
  • HELLP syndrome, maternal, of pregnancy, 609016
OMIM
600890
Clinvar variants
Variants in HADHA
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 HADHA was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene HADHA were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Fatty liver, acute, of pregnancy, 609016; LCHAD deficiency, 609016; Trifunctional protein deficiency, 609015; HELLP syndrome, maternal, of pregnancy, 609016 for gene: HADHA

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Fatty liver, acute, of pregnancy, 609016; LCHAD deficiency, 609016; Trifunctional protein deficiency, 609015; HELLP syndrome, maternal, of pregnancy, 609016 for gene: HADHA

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Fatty liver, acute, of pregnancy, 609016; LCHAD deficiency, 609016; Trifunctional protein deficiency, 609015; HELLP syndrome, maternal, of pregnancy, 609016 for gene: HADHA

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes HELLP syndrome, maternal, of pregnancy, 609016; LCHAD deficiency, 609016; Fatty liver, acute, of pregnancy, 609016; Trifunctional protein deficiency, 609015 for gene: HADHA

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to HADHA.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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