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Cataract

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

Lauren Akesson (Royal Melbourne Hospital)

Green List (high evidence)

Cataract is listed as part of the phenotype of 3-methylglutaconic aciduria caused by HTRA2 in OMIM (617248). Cataracts are a well established phenotypic feature of 3-methylglutaconic aciduria, which is caused by several genes including HTRA2. At least one proband with a homozygous HTRA2 variant has cataracts (PMID 27696117). A total of four unrelated families with homozygous HTRA2 variants demonstrate 3-methylglutaconic aciduria (PMID 27696117; 27208207) of which two variants segregate with disease within the families (PMID 27208207) and two variants have functional studies (PMID 27696117).
Sources: Literature
Created: 6 Apr 2020, 1:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria type VIII (617248)

Publications

Created: 6 Apr 2020, 1:01 a.m.

Panel version: 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria type VIII (617248)
OMIM
606441
Clinvar variants
Variants in HTRA2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

6 Apr 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).

6 Apr 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).

6 Apr 2020, Gel status: 0

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

Lauren Akesson (Royal Melbourne Hospital)

gene: HTRA2 was added gene: HTRA2 was added to Cataract. Sources: Literature Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to PMID: 27696117; 27208207 Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria type VIII (617248) Penetrance for gene: HTRA2 were set to unknown Review for gene: HTRA2 was set to GREEN