Cholestasis
Gene: HADHAEnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 18 panels
2 reviews
Miranda Durkie (Genetics)
PMID: 9003853 2/13 patients had cholestatic liver disease
PMID: 10518281 - 1 patient with cholestatic liver disease
Rare presentation of cholestatic liver disease - ok to rate as greenCreated: 20 Jan 2022, 2:24 p.m. | Last Modified: 20 Jan 2022, 2:24 p.m.
Panel Version: 1.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
This gene has been added to this panel as it is Green on the Neonatal cholestasis panel (v1.16). It has been given an Amber review and awaiting feedback from GMS about whether this gene should be promoted to Green status or not.Created: 18 Nov 2020, 4:01 p.m. | Last Modified: 18 Nov 2020, 4:01 p.m.
Panel Version: 1.74
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- LCHAD deficiency, OMIM:609016, MONDO:0012173
- OMIM
- 600890
- Clinvar variants
- Variants in HADHA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Hyperammonaemia
- Fetal hydrops
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: HADHA. Tag Q1_22_NHS_review was removed from gene: HADHA.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to HADHA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q1_22_NHS_review tag was added to gene: HADHA.
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: HADHA.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: HADHA was added gene: HADHA was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHA were set to 10518281; 9003853 Phenotypes for gene: HADHA were set to LCHAD deficiency, OMIM:609016, MONDO:0012173