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Additional findings_Paediatric

Gene: HADH

Green List (high evidence)

HADH (hydroxyacyl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000138796
EnsemblGeneIds (GRCh37): ENSG00000138796
OMIM: 601609, Gene2Phenotype
HADH is in 12 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple gene disease entries in Babyseq, this indication rated 'A'. Highly penetrant childhood onset disease.
Created: 5 Oct 2020, 4:26 a.m. | Last Modified: 5 Oct 2020, 4:26 a.m.
Panel Version: 0.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperinsulinemic hypoglycemia, familial, 4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
  • BabySeq Category A gene
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 4
OMIM
601609
Clinvar variants
Variants in HADH
Penetrance
None
Panels with this gene

History Filter Activity

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hadh has been classified as Green List (High Evidence).

6 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HADH were changed from 3-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4 to Hyperinsulinemic hypoglycemia, familial, 4

6 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hadh has been classified as Green List (High Evidence).

27 Aug 2020, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category C gene was added to HADH. Source Expert Review Red was added to HADH. Added phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency for gene: HADH Rating Changed from Green List (high evidence) to Red List (low evidence)

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HADH was added gene: HADH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4