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  2. Combined Immunodeficiency
  3. HTRA2
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Combined Immunodeficiency

Gene: HTRA2

Green List (high evidence)
HTRA2 (HtrA serine peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neutropaenia is a feature of this metabolic condition.
Sources: Expert list
Created: 9 Jan 2020, 12:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria, type VIII, MIM# 617248

Created: 9 Jan 2020, 12:49 a.m.

Panel version: 0.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 3-methylglutaconic aciduria, type VIII, MIM# 617248
OMIM
606441
Clinvar variants
Variants in HTRA2
Penetrance
None
Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: htra2 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: htra2 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HTRA2 was added gene: HTRA2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, MIM# 617248 Review for gene: HTRA2 was set to GREEN