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Hearing loss

Gene: HTRA2

Red List (low evidence)

HTRA2 (HtrA serine peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000115317
EnsemblGeneIds (GRCh37): ENSG00000115317
OMIM: 606441, Gene2Phenotype
HTRA2 is in 18 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Demoting from Amber to Red following review by Anna De Burca which notes that hearing loss is only reported in one family, and other phenotypes are more neurological.
Created: 28 Feb 2019, 11:49 a.m.

Anna de Burca (Genomics England Curator)

Red List (low evidence)

Although as noted by Sarah Leigh, biallelic variants in this gene have been associated with profound sensorineural hearing loss in a single consanguineous family (PMID:27208207), all reported cases have been associated with a severe early-onset neurodegenerative condition. Given the role of HTRA2 in the mitochondrion, it seems plausible that the reported hearing loss is a feature of the phenotype, however it is also possible that there was an independent cause for the hearing loss in this family. Since this panel is targeted primarily at non-syndromic hearing loss, and all of the reported cases to date have had a clearly recognisable, early-onset neurological condition in addition to hearing loss, it seems most appropriate for this gene to be red. It would be appropriate for inclusion in the panel in future if further cases are reported with isolated hearing loss.
Created: 12 Feb 2019, 2:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile neurodegeneration and 3-methylglutaconic aciduria

Publications

Sarah Leigh (Genomics England Curator)

I don't know

Associated with phenotype in OMIM and as a possible G2P. At least 4 homozygous variants reported in 4 unrelated ethnically diverse families. Segregation with the condition demonstrated for two of the variants (PMID 27208207) and functional studies provided for the remaining two variants (PMID 27696117). However, hearing loss is only reported in one consanguinous family
Created: 5 Sep 2017, 8:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria, type VIII 617248

Publications

History Filter Activity

28 Feb 2019, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: htra2 has been classified as Red List (Low Evidence).

5 Sep 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Sep 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Sep 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

HTRA2 was added to Congenital hearing impairment (profound/severe)panel. Sources: Literature

5 Sep 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

HTRA2 was created by sleigh